Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the adrenal glands (HP:0000834)help
Parent Node:
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Abnormality of adrenal morphology (HP:0011732)help
..Starting node
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Adrenocortical abnormality (HP:0000849)help
Term ID: 849
Name: Adrenocortical abnormality
Synonym:
Definition:
Comments:
Reference: HP:0000849
Genes and Diseases:
 
       Child Nodes:
........expandPigmented micronodular adrenocortical disease (HP:0001580) help
........expandAdrenocortical hypoplasia (HP:0008182) help

 Sister Nodes: 
..expandAdrenal calcification (HP:0010512) help
..expandAdrenal gland dysgenesis (HP:0008216) help
..expandAdrenal hyperplasia (HP:0008221) help
..expandAdrenal hypoplasia (HP:0000835) help
..expandAdrenocortical cytomegaly (HP:0008186) help
..expandEctopic adrenal gland (HP:0011742) help
..expandNeoplasm of the adrenal gland (HP:0100631) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000849HP:0000849Adrenocortical abnormality0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0000849HP:0000849Adrenocortical abnormality0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0000849HP:0000849Adrenocortical abnormality0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0000849HP:0000849Adrenocortical abnormality0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0000849HP:0000849Adrenocortical abnormality0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0000849HP:0000849Adrenocortical abnormality0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency13
HP:0000849HP:0000849Adrenocortical abnormality0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0000849HP:0000849Adrenocortical abnormality0NKX2-6 CL E G H13781432940ORPHA:3384Truncus arteriosusHP:0040283 - Occasional3
HP:0000849HP:0000849Adrenocortical abnormality0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0000849HP:0000849Adrenocortical abnormality0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0000849HP:0000849Adrenocortical abnormality0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0000849HP:0000849Adrenocortical abnormality0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0000849HP:0000849Adrenocortical abnormality0PLXND1 CL E G H231299107ORPHA:3384Truncus arteriosusHP:0040283 - Occasional
HP:0000849HP:0000849Adrenocortical abnormality0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0000849HP:0000849Adrenocortical abnormality0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0000849HP:0000849Adrenocortical abnormality0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0000849HP:0000849Adrenocortical abnormality0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0000849HP:0008182Adrenocortical hypoplasia1GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040280 - Obligate13
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040281 - Very frequent13
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040281 - Very frequent75
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040281 - Very frequent2
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040280 - Obligate134
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000849HP:0001580Pigmented micronodular adrenocortical disease1PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040281 - Very frequent134


Genes (13) :ABCD1 CDKN1A CDKN1B CDKN2B CDKN2C GK MEN1 NKX2-6 PDE11A PDE8B PLXND1 PRKACA PRKAR1A

Diseases (8) :ORPHA:139399 ORPHA:652 OMIM:307030 ORPHA:3384 ORPHA:1359 OMIM:610475 ORPHA:189439 OMIM:610489
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.