Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 43 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CDON CL E G H | 50937 | 17104 | OMIM:614226 | Holoprosencephaly 11 | | | | 200 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CILK1 CL E G H | 22858 | 21219 | OMIM:612651 | ENDOCRINE-CEREBROOSTEODYSPLASIA | . | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CNOT1 CL E G H | 23019 | 7877 | OMIM:619033 | VISSERS-BODMER SYNDROME; VIBOS | | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040283 - Occasional | | | 159 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | | | | 172 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:93274 | Thanatophoric dysplasia type 2 | HP:0040283 - Occasional | | | 145 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 157 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 184 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:253800 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4 | HP:0040283 - Occasional | | | 184 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | . | | | 173 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | . | | | 270 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 34 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | HOXA2 CL E G H | 3199 | 5103 | ORPHA:83463 | Microtia | HP:0040283 - Occasional | | | 21 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | L1CAM CL E G H | 3897 | 6470 | ORPHA:2182 | Hydrocephalus with stenosis of the aqueduct of Sylvius | HP:0040283 - Occasional | | | 134 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 136 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 183 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 180 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 213 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:588 | Muscle-eye-brain disease | HP:0040283 - Occasional | | | 221 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:1587 | Monosomy 13q14 | HP:0040283 - Occasional | | | 365 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SALL1 CL E G H | 6299 | 10524 | OMIM:107480 | Townes-Brocks syndrome 1 | | | | 124 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SHH CL E G H | 6469 | 10848 | OMIM:142945 | Holoprosencephaly 3 | . | | | 67 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SHH CL E G H | 6469 | 10848 | OMIM:611638 | Microphthalmia, isolated, with coloboma 5 | | | | 67 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | HP:0040282 - Frequent | | | 67 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | . | | | 32 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:77298 | Anophthalmia/microphthalmia-esophageal atresia syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | | | | 32 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | . | | | 27 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0001360 | HP:0001360 | Holoprosencephaly | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0001360 | HP:0030779 | Ethmocephaly | 1 | CL E G H | | | | | | | | | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 247 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 342 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2117 | Hartsfield syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0001360 | HP:0006988 | Alobar holoprosencephaly | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | . | | | 665 | | |
HP:0001360 | HP:0006988 | Alobar holoprosencephaly | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | RAD21 CL E G H | 5885 | 9811 | OMIM:614701 | Cornelia de Lange syndrome 4 | | | | 25 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | SEC31A CL E G H | 22872 | 17052 | OMIM:618651 | HALPERIN-BIRK SYNDROME; HLBKS | | | | | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0001360 | HP:0006988 | Alobar holoprosencephaly | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:157170 | Holoprosencephaly 2 | | | | 32 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0001360 | HP:0006988 | Alobar holoprosencephaly | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | STAG2 CL E G H | 10735 | 11355 | OMIM:301043 | HOLOPROSENCEPHALY 13, X-LINKED; HPE13 | | | | 1 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 76 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 31 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | TGIF1 CL E G H | 7050 | 11776 | OMIM:142946 | Holoprosencephaly 4 | . | | | 32 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0001360 | HP:0025670 | Syntelencephaly | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0001360 | HP:0006870 | Lobar holoprosencephaly | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0001360 | HP:0006988 | Alobar holoprosencephaly | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |
HP:0001360 | HP:0002507 | Semilobar holoprosencephaly | 1 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | | | | 34 | | |