Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002323 | HP:0002323 | Anencephaly | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 116 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | HP:0040283 - Occasional | | | 34 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:612284 | Meckel syndrome, type 6 | HP:0040283 - Occasional | HP:0003577 - Congenital onset | | 247 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CCL2 CL E G H | 6347 | 10618 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | HP:0040283 - Occasional | | | 342 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | DACT1 CL E G H | 51339 | 17748 | ORPHA:63260 | Craniorachischisis | HP:0040281 - Very frequent | | | 2 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | | | | 58 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | | | | 47 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | | | | 3 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | FUZ CL E G H | 80199 | 26219 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 3 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | HOXD13 CL E G H | 3239 | 5136 | ORPHA:887 | VACTERL/VATER association | HP:0040283 - Occasional | | | 25 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 31 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 28 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 167 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:614120 | Hydrolethalus syndrome 2 | . | | | 167 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 33 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 34 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 60 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | OMIM:611561 | Meckel syndrome, type 5 | . | | | 167 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 55 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, Rodríguez type | | | | 49 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | | | | 6 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | | | | 5 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TBXT CL E G H | 6862 | 11515 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | . | | | 45 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | | | | 56 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TRIM36 CL E G H | 55521 | 16280 | OMIM:206500 | ANENCEPHALY; ANPH | | | | 1 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | | | | 111 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | VANGL1 CL E G H | 81839 | 15512 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 111 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | VANGL2 CL E G H | 57216 | 15511 | OMIM:182940 | Neural tube defects, susceptibility to | . | | | 2 | | |
HP:0002323 | HP:0002323 | Anencephaly | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | | | | 27 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 116 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | FUZ CL E G H | 80199 | 26219 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 3 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040284 - Very rare | | | 270 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040283 - Occasional | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 31 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040283 - Occasional | | | 167 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | . | | | 96 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 60 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, Rodríguez type | HP:0040282 - Frequent | | | 49 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002323 | HP:0002139 | Arrhinencephaly | 1 | VANGL1 CL E G H | 81839 | 15512 | ORPHA:3027 | Caudal regression sequence | HP:0040283 - Occasional | | | 111 | | |
HP:0002323 | HP:0002324 | Hydranencephaly | 1 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | . | | | 27 | | |