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:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 200 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | | | | 12 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | | | | 173 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 2 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 21 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 43 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | | | | 183 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | | | | 41 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 34 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 7 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | | | | 100 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | | | | 2 | | |
HP:0011753 | HP:0011753 | Posterior pituitary dysgenesis | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | | | | 10 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 200 | | |
HP:0011753 | HP:0011757 | Posterior pituitary hypoplasia | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040282 - Frequent | | | 134 | | |
HP:0011753 | HP:0011757 | Posterior pituitary hypoplasia | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | HP:0040283 - Occasional | | | 12 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 173 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | GPR161 CL E G H | 23432 | 23694 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 2 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 21 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | 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:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 21 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | 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:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 43 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | 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:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 43 | | |
HP:0011753 | HP:0011756 | Posterior pituitary agenesis | 1 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 41 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:610125 | Microphthalmia, syndromic 5 | HP:0040283 - Occasional | | | 41 | | |
HP:0011753 | HP:0011757 | Posterior pituitary hypoplasia | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | | | | 41 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | OTX2 CL E G H | 5015 | 8522 | OMIM:613986 | Pituitary hormone deficiency, combined, 6 | . | | | 41 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 36 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | 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:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 34 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040284 - Very rare | | | 54 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | 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:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040284 - Very rare | | | 54 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | ROBO1 CL E G H | 6091 | 10249 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 7 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040284 - Very rare | | | 24 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0011753 | HP:0011756 | Posterior pituitary agenesis | 1 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0011753 | HP:0011755 | Ectopic posterior pituitary | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:95496 | Pituitary stalk interruption syndrome | HP:0040280 - Obligate | | | 10 | | |