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:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | ARNT2 CL E G H | 9915 | 16876 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:453533 | Polyendocrine-polyneuropathy syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 172 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 21 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | . | | | 21 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | HP:0040281 - Very frequent | | | 51 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | MTHFR CL E G H | 4524 | 7436 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 183 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | NONO CL E G H | 4841 | 7871 | ORPHA:466791 | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 41 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 34 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SIX6 CL E G H | 4990 | 10892 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 20 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SOX2 CL E G H | 6657 | 11195 | OMIM:206900 | Microphthalmia, syndromic 3 | . | | | 33 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SOX2 CL E G H | 6657 | 11195 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 33 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:3157 | Septo-optic dysplasia spectrum | HP:0040282 - Frequent | | | 24 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040283 - Occasional | | | 24 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | TBX3 CL E G H | 6926 | 11602 | OMIM:181450 | Ulnar-Mammary syndrome | . | | | 100 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | VANGL2 CL E G H | 57216 | 15511 | ORPHA:563612 | Isolated exencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0010627 | HP:0010627 | Anterior pituitary hypoplasia | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040283 - Occasional | | | 5 | | |