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:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | | | | 54 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | | | | 34 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | ANKH CL E G H | 56172 | 15492 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 164 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:2725 | Eye defects-arachnodactyly-cardiopathy syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:2484 | Melnick-Needles syndrome | HP:0040282 - Frequent | | | 493 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:1522 | Craniometaphyseal dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | | | | 68 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:174800 | McCune-Albright syndrome, somatic, mosaic | . | | | 101 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | LRP4 CL E G H | 4038 | 6696 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 124 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2790 | Endosteal hyperostosis, Worth type | HP:0040281 - Very frequent | | | 125 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2789 | Lateral meningocele syndrome | HP:0040282 - Frequent | | | 144 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | | | | 6 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:1513 | Craniodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 26 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SOST CL E G H | 50964 | 13771 | OMIM:122860 | Craniodiaphyseal dysplasia, autosomal dominant | . | | | 26 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SOST CL E G H | 50964 | 13771 | ORPHA:3152 | Sclerosteosis | HP:0040281 - Very frequent | | | 26 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | TBXAS1 CL E G H | 6916 | 11609 | ORPHA:1802 | Ghosal hematodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 16 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0004493 | HP:0004493 | Craniofacial hyperostosis | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0004493 | HP:0005465 | Facial hyperostosis | 1 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0004493 | HP:0005465 | Facial hyperostosis | 1 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0004493 | HP:0005465 | Facial hyperostosis | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:218400 | Craniometaphyseal dysplasia, autosomal recessive | . | | | 68 | | |
HP:0004493 | HP:0005465 | Facial hyperostosis | 1 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0004493 | HP:0005465 | Facial hyperostosis | 1 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0004493 | HP:0004472 | Mandibular hyperostosis | 2 | AKT1 CL E G H | 207 | 391 | OMIM:176920 | Proteus syndrome, somatic | . | | | 54 | | |
HP:0004493 | HP:0007285 | Facial palsy secondary to cranial hyperostosis | 2 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |