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:0000839 | HP:0000839 | Pituitary dwarfism | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | . | | | 50 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:262650 | Pituitary dwarfism IV | . | | | 50 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 173 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 21 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 43 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | . | | | 43 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 41 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 36 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040283 - Occasional | | | 54 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 54 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040283 - Occasional | | | 24 | | |
HP:0000839 | HP:0000839 | Pituitary dwarfism | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:312000 | Panhypopituitarism, X-linked | . | | | 24 | | |