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:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | | | | 5 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | | | | 2 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | | | | 215 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | DYM CL E G H | 54808 | 21317 | OMIM:223800 | Dyggve-Melchior-Clausen disease | . | | | 65 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | DYM CL E G H | 54808 | 21317 | OMIM:607326 | Smith-Mccort dysplasia 1 | . | | | 65 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | | | | 175 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | | | | 4 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | | | | 66 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | | | | 38 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | | | | 90 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | | | | 49 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | | | | 15 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | | | | 7 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0002692 | HP:0002692 | Hypoplastic facial bones | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002692 | HP:0005466 | Hypoplasia of the frontal bone | 1 | ALX1 CL E G H | 8092 | 1494 | ORPHA:306542 | Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | CNOT1 CL E G H | 23019 | 7877 | ORPHA:556955 | Pancreatic agenesis-holoprosencephaly syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 172 | | |
HP:0002692 | HP:0005466 | Hypoplasia of the frontal bone | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010650 | Hypoplasia of the premaxilla | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040282 - Frequent | | | 178 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002692 | HP:0005466 | Hypoplasia of the frontal bone | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 183 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | NBAS CL E G H | 51594 | 15625 | OMIM:614800 | Short stature, optic nerve atrophy, and pelger-huet anomaly | | | | 25 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | NECTIN1 CL E G H | 5818 | 9706 | ORPHA:3253 | Cleft lip/palate-ectodermal dysplasia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | PEPD CL E G H | 5184 | 8840 | ORPHA:742 | Prolidase deficiency | HP:0040283 - Occasional | | | 66 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | POLR1C CL E G H | 9533 | 20194 | OMIM:248390 | Treacher collins syndrome 3 | | | | 38 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0002692 | HP:0010650 | Hypoplasia of the premaxilla | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | . | | | 665 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040281 - Very frequent | | | 90 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:245 | Nager syndrome | HP:0040281 - Very frequent | | | 49 | | |
HP:0002692 | HP:0010650 | Hypoplasia of the premaxilla | 1 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040283 - Occasional | | | 15 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:920 | Ablepharon macrostomia syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:200110 | Ablepharon-Macrostomia syndrome | | | | 7 | | |
HP:0002692 | HP:0005466 | Hypoplasia of the frontal bone | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0002692 | HP:0010669 | Hypoplasia of the zygomatic bone | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040282 - Frequent | | | | | |
HP:0002692 | HP:0005439 | Maxillozygomatic hypoplasia | 2 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |