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:0003502 | HP:0003502 | Mild short stature | 0 | CAMK2G CL E G H | 818 | 1463 | OMIM:618522 | Intellectual developmental disorder 59 | . | | | 1 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:617719 | EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7 | | | | 85 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | CHST11 CL E G H | 50515 | 17422 | OMIM:618167 | Osteochondrodysplasia, brachydactyly, and overlapping malformed digits | . | | | 1 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:130060 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | . | | | 373 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:600204 | Epiphyseal dysplasia, multiple, 2 | . | | | 110 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | COL9A3 CL E G H | 1299 | 2219 | OMIM:600969 | Epiphyseal dysplasia, multiple, 3, with or without myopathy | . | | | 137 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | COMP CL E G H | 1311 | 2227 | OMIM:132400 | Epiphyseal dysplasia, multiple, 1 | . | | | 89 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | DOCK3 CL E G H | 1795 | 2989 | OMIM:618292 | Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia | . | | | 3 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | EVC CL E G H | 2121 | 3497 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 209 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | EVC CL E G H | 2121 | 3497 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 209 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | EVC2 CL E G H | 132884 | 19747 | ORPHA:952 | Acrofacial dysostosis, Weyers type | HP:0040281 - Very frequent | | | 137 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:193530 | Weyers acrofacial dysostosis | . | | | 137 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | FGD1 CL E G H | 2245 | 3663 | OMIM:305400 | Aarskog-Scott syndrome | . | | | 62 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | . | | | 86 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | LBR CL E G H | 3930 | 6518 | OMIM:618019 | PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK | | | | 70 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | MATN3 CL E G H | 4148 | 6909 | ORPHA:93311 | Multiple epiphyseal dysplasia type 5 | HP:0040282 - Frequent | | | 32 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | PDE4D CL E G H | 5144 | 8783 | OMIM:614613 | Acrodysostosis 2 with or without hormone resistance | HP:0040283 - Occasional | | | 113 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 113 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 134 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | . | | | 113 | | |
HP:0003502 | HP:0003502 | Mild short stature | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:601358 | Nicolaides-Baraitser syndrome | | | | 146 | | |