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:0100039 | HP:0100039 | Thickened cortex of bones | 0 | ANO5 CL E G H | 203859 | 27337 | ORPHA:53697 | Gnathodiaphyseal dysplasia | | | | 304 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | | | | 373 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | | | | 8 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | | | | 144 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | | | | 144 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:144750 | Hyperostosis, endosteal | | | | 125 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:607634 | Osteopetrosis, autosomal dominant 1 | | | | 125 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | | | | 1952 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | | | | 52 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | | | | 13 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0100039 | HP:0100039 | Thickened cortex of bones | 0 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0100039 | HP:0004271 | Cortical thickening of hand bones | 1 | CL E G H | | | | | | | | | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | ANO5 CL E G H | 203859 | 27337 | ORPHA:53697 | Gnathodiaphyseal dysplasia | HP:0040281 - Very frequent | | | 304 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | | | | 373 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | LIFR CL E G H | 3977 | 6597 | ORPHA:3206 | Stüve-Wiedemann syndrome | HP:0040281 - Very frequent | | | 144 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:144750 | Hyperostosis, endosteal | . | | | 125 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:607634 | Osteopetrosis, autosomal dominant 1 | | | | 125 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | | | | 26 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | | | | 52 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | | | | 13 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |
HP:0100039 | HP:0000935 | Thickened cortex of long bones | 1 | TRIM37 CL E G H | 4591 | 7523 | OMIM:253250 | Mulibrey nanism | | | | 78 | | |
HP:0100039 | HP:0005665 | Massively thickened long bone cortices | 2 | CL E G H | | | | | | | | | | |
HP:0100039 | HP:0003868 | Humeral cortical thickening | 2 | CL E G H | | | | | | | | | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1310 | Caffey disease | HP:0040283 - Occasional | | | 373 | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0100039 | HP:0006415 | Cortically dense long tubular bones | 2 | SOST CL E G H | 50964 | 13771 | OMIM:269500 | Sclerosteosis 1 | . | | | 26 | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0100039 | HP:0005791 | Cortical thickening of long bone diaphyses | 2 | TGFB1 CL E G H | 7040 | 11766 | OMIM:131300 | Camurati-Engelmann disease | | | | 13 | | |