Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | | | | 57 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ALX3 CL E G H | 257 | 449 | ORPHA:391474 | Frontorhiny | HP:0040283 - Occasional | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | | | | 65 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | APOA5 CL E G H | 116519 | 17288 | OMIM:145750 | Hypertriglyceridemia, familial | . | | | 7 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 276 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | | 8 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | | | | 515 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 88 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | | | | 36 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 115 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | | | | 11 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | | | | 92 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FARSA CL E G H | 2193 | 3592 | OMIM:619013 | RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | | | | 172 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | | | | 233 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | | | | 4 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:612781 | Growth hormone deficiency, isolated, type IB | | | | 50 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | | | | 50 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | | | | 37 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:615849 | Culler-Jones syndrome | . | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | | | | 24 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GPR101 CL E G H | 83550 | 14963 | OMIM:300942 | Chromosome Xq26.3 duplication syndrome | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 21 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 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:0040075 | HP:0040075 | Hypopituitarism | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | | | | 21 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | | | | 21 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | | | | 8 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | | | | 51 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 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:0040075 | HP:0040075 | Hypopituitarism | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 43 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 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:0040075 | HP:0040075 | Hypopituitarism | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | | | | 25 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 41 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | | | | 27 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 36 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 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:0040075 | HP:0040075 | Hypopituitarism | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | | | | 40 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | | | | 7 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040280 - Obligate | | | 54 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 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:0040075 | HP:0040075 | Hypopituitarism | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040280 - Obligate | | | 54 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | | | | 54 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | | | | 125 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | | | | 14 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | | | | 61 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | | | | 24 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040280 - Obligate | | | 24 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SOX3 CL E G H | 6658 | 11199 | OMIM:312000 | Panhypopituitarism, X-linked | | | | 24 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | | | | 57 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | | | | 166 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:140976 | RHYNS syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | | | | 140 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | | | | 27 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | | | | 10 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | HP:0040283 - Occasional | | | 5 | | |
HP:0040075 | HP:0040075 | Hypopituitarism | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040283 - Occasional | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | | | | 16 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | | | | 6 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 95 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ANOS1 CL E G H | 3730 | 6211 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ATP8 CL E G H | 4509 | 7415 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | | | | 8 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CCDC141 CL E G H | 285025 | 26821 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 636 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | | | | 289 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 200 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 515 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | | | | 88 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | | | | 87 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 36 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DUSP6 CL E G H | 1848 | 3072 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | EDA CL E G H | 1896 | 3157 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 115 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | EDA2R CL E G H | 60401 | 17756 | ORPHA:181 | X-linked hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | | | | 92 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FEZF1 CL E G H | 389549 | 22788 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF17 CL E G H | 8822 | 3673 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 17 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | | | | 172 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 172 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | | | | 233 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FLRT3 CL E G H | 23767 | 3762 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 48 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | | | | 23 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GH1 CL E G H | 2688 | 4261 | OMIM:612781 | Growth hormone deficiency, isolated, type IB | | | | 50 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | | | | 50 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | | | | 37 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 173 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 101 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 21 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HESX1 CL E G H | 8820 | 4877 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | | | | 21 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | HS6ST1 CL E G H | 9394 | 5201 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | | | | 25 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IL17RD CL E G H | 54756 | 17616 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | | | | 14 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | | | | 91 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | | | | 47 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | | | | 46 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | | | | 51 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 43 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | | | | 25 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040283 - Occasional | | | 462 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NDNF CL E G H | 79625 | 26256 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 45 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 41 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 113 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | | | | 27 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 36 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | | | | 7 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | | | | 134 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | | | | 134 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROK2 CL E G H | 60675 | 18455 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROKR2 CL E G H | 128674 | 15836 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | | | | 54 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 54 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | | | | 54 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 665 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | RRM2B CL E G H | 50484 | 17296 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | | | | 26 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SEMA3A CL E G H | 10371 | 10723 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 135 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SMO CL E G H | 6608 | 11119 | OMIM:241800 | Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included | . | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SOX10 CL E G H | 6663 | 11190 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 61 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | | | | 24 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | | | | 24 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SOX3 CL E G H | 6658 | 11199 | OMIM:312000 | Panhypopituitarism, X-linked | | | | 24 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | | | | 24 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SPRY4 CL E G H | 81848 | 15533 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | | | | 80 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 99 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 99 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | | | | 86 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | | | | 124 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TACR3 CL E G H | 6870 | 11528 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | | | | 57 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 1 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | | | | 238 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 32 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | | | | 5 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | | | | 911 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:480 | Kearns-Sayre syndrome | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | | | | 9 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | WDR11 CL E G H | 55717 | 13831 | ORPHA:478 | Kallmann syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | | | | 7 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040282 - Frequent | | | 34 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0040075 | HP:0000830 | Anterior hypopituitarism | 1 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040284 - Very rare | | | 16 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | | | | | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | | | | 114 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 289 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | CDON CL E G H | 50937 | 17104 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | . | | | 515 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 88 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DCAF17 CL E G H | 80067 | 25784 | ORPHA:3464 | Woodhouse-Sakati syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DISP1 CL E G H | 84976 | 19711 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | DLL1 CL E G H | 28514 | 2908 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040284 - Very rare | | | 134 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | EIF2S3 CL E G H | 1968 | 3267 | OMIM:300148 | Mehmo syndrome | | | | 8 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ESCO2 CL E G H | 157570 | 27230 | OMIM:216100 | Cleft lip/palate with abnormal thumbs and microcephaly | | | | 92 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FANCI CL E G H | 55215 | 25568 | OMIM:609053 | Fanconi anemia, complementation group I | | | | 157 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGF8 CL E G H | 2253 | 3686 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:615465 | Hartsfield syndrome | . | | | 172 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 172 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FLNB CL E G H | 2317 | 3755 | ORPHA:1263 | Boomerang dysplasia | HP:0040281 - Very frequent | | | 233 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FOXA2 CL E G H | 3170 | 5022 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | FSHB CL E G H | 2488 | 3964 | ORPHA:52901 | Isolated follicle stimulating hormone deficiency | HP:0040280 - Obligate | | | 23 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GAS1 CL E G H | 2619 | 4165 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GH1 CL E G H | 2688 | 4261 | OMIM:612781 | Growth hormone deficiency, isolated, type IB | | | | 50 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GH1 CL E G H | 2688 | 4261 | OMIM:173100 | Isolated growth hormone deficiency, type II | | | | 50 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GHRHR CL E G H | 2692 | 4266 | OMIM:618157 | ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD4 | | | | 44 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GHSR CL E G H | 2693 | 4267 | OMIM:615925 | Growth hormone deficiency, isolated partial | | | | 37 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | OMIM:610829 | Holoprosencephaly 9 | | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI2 CL E G H | 2736 | 4318 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040284 - Very rare | | | 101 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | | | | 101 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 21 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 21 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 21 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | HESX1 CL E G H | 8820 | 4877 | OMIM:182230 | Septooptic dysplasia | | | | 21 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | HID1 CL E G H | 283987 | 15736 | OMIM:619983 | | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | | | | 9 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040284 - Very rare | | | 283 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040284 - Very rare | | | 283 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | KISS1R CL E G H | 84634 | 4510 | OMIM:614837 | Hypogonadotropic hypogonadism 8 with or without anosmia | . | | | 14 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LEP CL E G H | 3952 | 6553 | ORPHA:66628 | Obesity due to congenital leptin deficiency | HP:0040282 - Frequent | | | 47 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | | | | 46 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LEPR CL E G H | 3953 | 6554 | OMIM:614963 | Leptin receptor deficiency | . | | | 46 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LEPR CL E G H | 3953 | 6554 | ORPHA:179494 | Obesity due to leptin receptor gene deficiency | HP:0040282 - Frequent | | | 46 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | | | | 51 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | LHX3 CL E G H | 8022 | 6595 | OMIM:221750 | Deafness, sensorineural, with pituitary dwarfism | . | | | 51 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 51 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 51 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | 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:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | LHX3 CL E G H | 8022 | 6595 | ORPHA:231720 | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 43 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 43 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000871 | Panhypopituitarism | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 43 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MAP2K2 CL E G H | 5605 | 6842 | OMIM:615280 | Cardiofaciocutaneous syndrome 4 | | | | 178 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | | | | 25 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | MPDU1 CL E G H | 9526 | 7207 | ORPHA:79323 | MPDU1-CDG | | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NODAL CL E G H | 4838 | 7865 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | OTX2 CL E G H | 5015 | 8522 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 41 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040283 - Occasional | | | 65 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PDE4D CL E G H | 5144 | 8783 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 113 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PITX2 CL E G H | 5308 | 9005 | OMIM:180500 | Axenfeld-rieger syndrome, type 1 | | | | 51 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PLCH1 CL E G H | 23007 | 29185 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:275400 | Oliver-Mcfarlane syndrome | | | | 103 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POLE CL E G H | 5426 | 9177 | OMIM:618336 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency | | | | 1129 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040283 - Occasional | | | 27 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | | | | 27 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0040075 | HP:0008213 | Gonadotropin deficiency | 2 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 36 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000871 | Panhypopituitarism | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 36 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 36 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | POU3F4 CL E G H | 5456 | 9217 | ORPHA:1435 | Xq21 microdeletion syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PREPL CL E G H | 9581 | 30228 | OMIM:616224 | Myasthenic syndrome, congenital, 22 | | | | 7 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:280651 | Acrodysostosis with multiple hormone resistance | HP:0040282 - Frequent | | | 134 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 134 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:95494 | Combined pituitary hormone deficiencies, genetic forms | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040281 - Very frequent | | | 54 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | 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:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | | | | 54 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PROP1 CL E G H | 5626 | 9455 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | . | | | 54 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | | | | 54 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | OMIM:610828 | Holoprosencephaly 7 | | | | 665 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | RNPC3 CL E G H | 55599 | 18666 | OMIM:618160 | Isolated growth hormone deficiency, type V | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SHH CL E G H | 6469 | 10848 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SHH CL E G H | 6469 | 10848 | OMIM:147250 | Solitary median maxillary central incisor | | | | 67 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SIX3 CL E G H | 6496 | 10889 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040284 - Very rare | | | 104 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 135 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | 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:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | . | | | 24 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SOX3 CL E G H | 6658 | 11199 | OMIM:300123 | Mental retardation, X-linked, with isolated growth hormone deficiency | | | | 24 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:90695 | Non-acquired panhypopituitarism | HP:0040282 - Frequent | | | 24 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SOX3 CL E G H | 6658 | 11199 | OMIM:312000 | Panhypopituitarism, X-linked | . | | | 24 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SOX3 CL E G H | 6658 | 11199 | ORPHA:67045 | X-linked intellectual disability with isolated growth hormone deficiency | HP:0040281 - Very frequent | | | 24 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040283 - Occasional | | | 80 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040284 - Very rare | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STAG2 CL E G H | 10735 | 11355 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STAG2 CL E G H | 10735 | 11355 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STIL CL E G H | 6491 | 10879 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040284 - Very rare | | | 86 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 124 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | . | | | 57 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 238 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | . | | | 166 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:602152 | Rhyns syndrome | | | | 166 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | TP53 CL E G H | 7157 | 11998 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | 911 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | | | | 140 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040075 | HP:0040086 | Abnormal prolactin level | 2 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | | | | 2 | | |
HP:0040075 | HP:0008245 | Pituitary hypothyroidism | 2 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | | | | 546 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93925 | Alobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93924 | Lobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280200 | Microform holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:93926 | Midline interhemispheric variant of holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000871 | Panhypopituitarism | 2 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:220386 | Semilobar holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0040075 | HP:0000824 | Decreased response to growth hormone stimulation test | 2 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | | | | 4 | | |
HP:0040075 | HP:0011748 | Adrenocorticotropic hormone deficiency | 2 | ZNRF3 CL E G H | 84133 | 18126 | ORPHA:1501 | Adrenocortical carcinoma | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 54 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 184 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | DBH CL E G H | 1621 | 2689 | OMIM:223360 | Dopamine beta-hydroxylase deficiency, congenital | | | | 80 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040284 - Very rare | | | 101 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040284 - Very rare | | | 101 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | 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:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | IGSF1 CL E G H | 3547 | 5948 | OMIM:300888 | Hypothyroidism, central, and testicular enlargement | | | | 12 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | 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:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | 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:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 220 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 9 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 162 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | 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:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | | | | 36 | | |
HP:0040075 | HP:0033579 | Decreased growth hormone responses to growth hormone-releasing hormone challenge | 3 | PRKAR1A CL E G H | 5573 | 9388 | OMIM:101800 | Acrodysostosis 1, with or without hormone resistance | | | | 134 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | 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:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | . | | | 54 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 87 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 47 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 22 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 124 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | 238 | | |
HP:0040075 | HP:0008240 | Secondary growth hormone deficiency | 3 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040283 - Occasional | | | | | |
HP:0040075 | HP:0008202 | Reduced circulating prolactin concentration | 3 | TRHR CL E G H | 7201 | 12299 | ORPHA:99832 | Resistance to thyrotropin-releasing hormone syndrome | HP:0040282 - Frequent | | | 2 | | |