Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AAAS CL E G H | 8086 | 13666 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040283 - Occasional | | | 135 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | | | | 135 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | | | | 95 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | | | | 92 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | | | | 276 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | | | | 636 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | | | | 636 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | | | | 88 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | | | | 31 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11A1 CL E G H | 1583 | 2590 | OMIM:613743 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | . | | | 31 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | | | | 31 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | | | | 53 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | DHX37 CL E G H | 57647 | 17210 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | DMRT3 CL E G H | 58524 | 13909 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 87 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | | | | 13 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | GMPPA CL E G H | 29926 | 22923 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040284 - Very rare | | | 580 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040284 - Very rare | | | 580 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | | | | 283 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | | | | 283 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | . | | | 43 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | LIPA CL E G H | 3988 | 6617 | ORPHA:75233 | Wolman disease | HP:0040283 - Occasional | | | 73 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MAP3K1 CL E G H | 4214 | 6848 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 13 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 94 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | | | | 94 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | | | | 462 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 26 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MRAP CL E G H | 56246 | 1304 | OMIM:607398 | Glucocorticoid deficiency 2 | | | | 26 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MRPS25 CL E G H | 64432 | 14511 | OMIM:619025 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | | | | 12 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NDUFAF5 CL E G H | 79133 | 15899 | OMIM:618238 | Mitochondrial complex I deficiency, nuclear type 16 | | | | 34 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NFS1 CL E G H | 9054 | 15910 | OMIM:619386 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52 | | | | 5 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 13 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NR0B1 CL E G H | 190 | 7960 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 48 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | | | | 79 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | | | | 109 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | NR5A1 CL E G H | 2516 | 7983 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 38 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | | | | 65 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | | | | 65 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 169 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | | | | 169 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 75 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | | | | 75 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 4 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | | | | 4 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 65 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | | | | 65 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 66 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | | | | 66 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 46 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | | | | 46 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 59 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | | | | 59 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 62 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | | | | 62 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 82 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | | | | 82 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 106 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | | | | 106 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 47 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | | | | 47 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 99 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | | | | 99 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | | | | 98 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX6 CL E G H | 5190 | 8859 | OMIM:614863 | Peroxisome biogenesis disorder 4B | . | | | 98 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | | | | 98 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | | | | 27 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | POMC CL E G H | 5443 | 9201 | OMIM:609734 | Obesity, early-onset, with adrenal insufficiency and red hair | . | | | 27 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PROP1 CL E G H | 5626 | 9455 | OMIM:262600 | Pituitary hormone deficiency, combined, 2 | . | | | 54 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SAA1 CL E G H | 6288 | 10513 | ORPHA:85445 | AA amyloidosis | HP:0040284 - Very rare | | | 2 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | . | | | 8 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SGPL1 CL E G H | 8879 | 10817 | OMIM:617575 | Nephrotic syndrome, type 14 | . | | | 8 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 109 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SRY CL E G H | 6736 | 11311 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 23 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 45 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040283 - Occasional | | | 1 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | | | | 13 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | | | | 57 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:869 | Triple A syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 85 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | TXNRD2 CL E G H | 10587 | 18155 | OMIM:617825 | GLUCOCORTICOID DEFICIENCY 5; GCCD5 | | | | 85 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | VAMP7 CL E G H | 6845 | 11486 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 2 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 177 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 149 | | |
HP:0000846 | HP:0000846 | Adrenal insufficiency | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:251510 | 46,XY partial gonadal dysgenesis | HP:0040283 - Occasional | | | 31 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | | | | 57 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | ABCD1 CL E G H | 215 | 61 | OMIM:300100 | Adrenoleukodystrophy | | | | 135 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139399 | Adrenomyeloneuropathy | HP:0040283 - Occasional | | | 135 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 276 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040282 - Frequent | | | 88 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | | | | 73 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | | | | 73 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040283 - Occasional | | | 53 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | | | | 14 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | | | | 34 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040283 - Occasional | | | 283 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040283 - Occasional | | | 283 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 94 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | | | | 94 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 26 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | MRAP CL E G H | 56246 | 1304 | OMIM:607398 | Glucocorticoid deficiency 2 | | | | 26 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | MRPS7 CL E G H | 51081 | 14499 | OMIM:617872 | Combined oxidative phosphorylation deficiency 34 | . | | | 12 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 13 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | | | | 79 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | | | | 109 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | PCSK1 CL E G H | 5122 | 8743 | ORPHA:71528 | Obesity due to prohormone convertase I deficiency | HP:0040282 - Frequent | | | 65 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | | | | 65 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 169 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX1 CL E G H | 5189 | 8850 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 75 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 75 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 4 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX11B CL E G H | 8799 | 8853 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 65 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX12 CL E G H | 5193 | 8854 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 66 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX13 CL E G H | 5194 | 8855 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 66 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 46 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX14 CL E G H | 5195 | 8856 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 59 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX16 CL E G H | 9409 | 8857 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 62 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX19 CL E G H | 5824 | 9713 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 62 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 82 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX2 CL E G H | 5828 | 9717 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 106 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX26 CL E G H | 55670 | 22965 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX3 CL E G H | 8504 | 8858 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 99 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX5 CL E G H | 5830 | 9719 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 99 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:44 | Neonatal adrenoleukodystrophy | HP:0040281 - Very frequent | | | 98 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:912 | Zellweger syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | POMC CL E G H | 5443 | 9201 | ORPHA:71526 | Obesity due to pro-opiomelanocortin deficiency | HP:0040282 - Frequent | | | 27 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | RBM28 CL E G H | 55131 | 21863 | OMIM:612079 | Alopecia, neurologic defects, and endocrinopathy syndrome | . | | | 1 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | | | | 1 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | | | | 61 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | 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:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 45 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040284 - Very rare | | | 13 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | | | | 57 | | |
HP:0000846 | HP:0011734 | Central adrenal insufficiency | 1 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | | | | 57 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040283 - Occasional | | | 31 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | | | | 85 | | |
HP:0000846 | HP:0008207 | Primary adrenal insufficiency | 1 | TXNRD2 CL E G H | 10587 | 18155 | OMIM:617825 | GLUCOCORTICOID DEFICIENCY 5; GCCD5 | | | | 85 | | |
HP:0000846 | HP:0011738 | Corticotropin-releasing hormone receptor defect | 2 | CL E G H | | | | | | | | | | |
HP:0000846 | HP:0011737 | Corticotropin-releasing hormone deficient adrenal insufficiency | 2 | CL E G H | | | | | | | | | | |
HP:0000846 | HP:0008259 | Adrenocorticotropin receptor defect | 2 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | AAAS CL E G H | 8086 | 13666 | OMIM:231550 | Achalasia-Addisonianism-Alacrima syndrome | . | | | 57 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | ABCD1 CL E G H | 215 | 61 | ORPHA:139396 | X-linked cerebral adrenoleukodystrophy | HP:0040281 - Very frequent | | | 135 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | AIP CL E G H | 9049 | 358 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 95 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 54 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 184 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | CDH23 CL E G H | 64072 | 13733 | ORPHA:91347 | TSH-secreting pituitary adenoma | HP:0040282 - Frequent | | | 636 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:168558 | 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | CYP11A1 CL E G H | 1583 | 2590 | ORPHA:289548 | Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11B1 CL E G H | 1584 | 2591 | OMIM:202010 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | | | | 112 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | CYP11B1 CL E G H | 1584 | 2591 | ORPHA:90795 | Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency | HP:0040281 - Very frequent | | | 112 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:203400 | Corticosterone methyloxidase type I deficiency | . | | | 73 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11B2 CL E G H | 1585 | 2592 | ORPHA:556030 | Early-onset familial hypoaldosteronism | HP:0040282 - Frequent | | | 73 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP11B2 CL E G H | 1585 | 2592 | OMIM:610600 | Hypoaldosteronism, congenital, due to CMO II deficiency | | | | 73 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | CYP17A1 CL E G H | 1586 | 2593 | ORPHA:90793 | Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency | HP:0040282 - Frequent | | | 53 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | GATB CL E G H | 5188 | 8849 | OMIM:618838 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41 | | | | | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | GATC CL E G H | 283459 | 25068 | OMIM:618839 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42 | | | | 1 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | GLI3 CL E G H | 2737 | 4319 | OMIM:146510 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | HSD11B2 CL E G H | 3291 | 5209 | OMIM:218030 | Apparent mineralocorticoid excess | . | | | 14 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | HSD11B2 CL E G H | 3291 | 5209 | ORPHA:320 | Apparent mineralocorticoid excess | HP:0040282 - Frequent | | | 14 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | HSD3B2 CL E G H | 3284 | 5218 | ORPHA:90791 | Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency | HP:0040282 - Frequent | | | 34 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 94 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | MC2R CL E G H | 4158 | 6930 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | MC2R CL E G H | 4158 | 6930 | OMIM:202200 | Glucocorticoid deficiency 1 | . | | | 94 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | MEN1 CL E G H | 4221 | 7010 | ORPHA:2965 | Prolactinoma | HP:0040282 - Frequent | | | 462 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 26 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | MRAP CL E G H | 56246 | 1304 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 26 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | MRAP CL E G H | 56246 | 1304 | OMIM:607398 | Glucocorticoid deficiency 2 | . | | | 26 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 220 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | NNT CL E G H | 23530 | 7863 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 13 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | NR0B1 CL E G H | 190 | 7960 | OMIM:300200 | Adrenal hypoplasia, congenital | . | | | 48 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | NR3C1 CL E G H | 2908 | 7978 | ORPHA:786 | Generalized glucocorticoid resistance syndrome | HP:0040281 - Very frequent | | | 79 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | NR3C2 CL E G H | 4306 | 7979 | OMIM:605115 | Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy | . | | | 109 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | PCSK1 CL E G H | 5122 | 8743 | OMIM:600955 | Proprotein convertase 1/3 deficiency | . | | | 65 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 9 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 162 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040282 - Frequent | | | 76 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | QRSL1 CL E G H | 55278 | 21020 | OMIM:618835 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40 | | | | | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | RBM28 CL E G H | 55131 | 21863 | ORPHA:157954 | ANE syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | SCNN1B CL E G H | 6338 | 10600 | OMIM:177200 | Liddle syndrome 1 | . | | | 61 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | SCNN1G CL E G H | 6340 | 10602 | OMIM:618114 | Liddle syndrome 2 | | | | 57 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | SERPINA6 CL E G H | 866 | 1540 | OMIM:611489 | Corticosteroid-binding globulin deficiency | | | | 4 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 87 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 47 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 22 | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 45 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | STAR CL E G H | 6770 | 11359 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 45 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 124 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TBX19 CL E G H | 9095 | 11596 | OMIM:201400 | Acth deficiency, isolated | . | | | 57 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040280 - Obligate | | | 57 | | |
HP:0000846 | HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency | 2 | TBX19 CL E G H | 9095 | 11596 | ORPHA:199296 | Congenital isolated ACTH deficiency | HP:0040280 - Obligate | | | 57 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | 238 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040282 - Frequent | | | | | |
HP:0000846 | HP:0004319 | Decreased circulating aldosterone level | 2 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040283 - Occasional | | | 85 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TXNRD2 CL E G H | 10587 | 18155 | ORPHA:361 | Familial glucocorticoid deficiency | HP:0040280 - Obligate | | | 85 | | |
HP:0000846 | HP:0008163 | Decreased circulating cortisol level | 2 | TXNRD2 CL E G H | 10587 | 18155 | OMIM:617825 | GLUCOCORTICOID DEFICIENCY 5; GCCD5 | | | | 85 | | |