Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of the endocrine system (HP:0000818)help
Parent Node:
expandAbnormal circulating hormone concentration (HP:0003117)help
..Starting node
..expandAbnormal circulating inhibin level (HP:0031099)help
Term ID: 31099
Name: Abnormal circulating inhibin level
Synonym:
Definition: Any deviation from the normal concentration of inhibins, which are heterodimeric protein hormones secreted by granulosa cells of the ovary in females and Sertoli cells of the testis in males. Inhibins suppress the secretion of pituitary follicle-stimulating hormone.
Comments:
Reference: HP:0031099
Genes and Diseases:
 
       Child Nodes:
........expandDecreased inhibin B level (HP:0031100) help

 Sister Nodes: 
..expandAbnormal adiponectin level (HP:0030684) help
..expandAbnormal circulating adrenocorticotropin concentration (HP:0011043) help
..expandAbnormal circulating androgen level (HP:0030347) help
..expandAbnormal circulating antimullerian hormone concentration (HP:0031101) help
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating gonadotropin concentration (HP:0030338) help
..expandAbnormal circulating insulin concentration (HP:0040214) help
..expandAbnormal circulating leptin concentration (HP:0004361) help
..expandAbnormal circulating osteocalcin level (HP:0031427) help
..expandAbnormal circulating pregnenolone concentration (HP:0031187) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal circulating thyroid hormone concentration (HP:0031508) help
..expandAbnormal glucagon level (HP:0030687) help
..expandAbnormal gonadotropin-releasing hormone concentration (HP:0500012) help
..expandAbnormal serum insulin-like growth factor 1 level (HP:0030352) help
..expandAbnormality of circulating catecholamine level (HP:0012099) help
..expandAbnormality of circulating glucocorticoid level (HP:0012111) help
..expandDecreased circulating dehydroepiandrosterone concentration (HP:0031214) help
..expandDecreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215) help
..expandDecreased circulating parathyroid hormone level (HP:0031817) help
..expandDecreased response to growth hormone stimulation test (HP:0000824) help
..expandElevated circulating parathyroid hormone level (HP:0003165) help
..expandElevated vascular endothelial growth factor level (HP:0031052) help
..expandFasting hypoglycemia (HP:0003162) help
..expandIncreased pituitary glycoprotein hormone alpha subunit level (HP:0031208) help
..expandIncreased serum serotonin (HP:0003144) help
..expandobsolete Increased serum 1,25-dihydroxyvitamin D3 (HP:0003152) 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:0031099HP:0031099Abnormal circulating inhibin level0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0031099HP:0031099Abnormal circulating inhibin level0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0031099HP:0031099Abnormal circulating inhibin level0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0031099HP:0031099Abnormal circulating inhibin level0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0031099HP:0031099Abnormal circulating inhibin level0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0031099HP:0031099Abnormal circulating inhibin level0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0031099HP:0031099Abnormal circulating inhibin level0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0031099HP:0031099Abnormal circulating inhibin level0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0031099HP:0031099Abnormal circulating inhibin level0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0031099HP:0031099Abnormal circulating inhibin level0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0031099HP:0031099Abnormal circulating inhibin level0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0031099HP:0031099Abnormal circulating inhibin level0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0031099HP:0031099Abnormal circulating inhibin level0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0031099HP:0031099Abnormal circulating inhibin level0XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125
HP:0031099HP:0031100Decreased inhibin B level1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0031099HP:0031100Decreased inhibin B level1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0031099HP:0031100Decreased inhibin B level1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0031099HP:0031100Decreased inhibin B level1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0031099HP:0031100Decreased inhibin B level1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0031099HP:0031100Decreased inhibin B level1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0031099HP:0031100Decreased inhibin B level1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0031099HP:0031100Decreased inhibin B level1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0031099HP:0031100Decreased inhibin B level1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0031099HP:0031100Decreased inhibin B level1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0031099HP:0031100Decreased inhibin B level1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0031099HP:0031100Decreased inhibin B level1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0031099HP:0031100Decreased inhibin B level1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0031099HP:0031100Decreased inhibin B level1XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125


Genes (6) :MAGEL2 NDN OCA2 POR SNRPN XRCC2

Diseases (5) :ORPHA:98754 ORPHA:177901 ORPHA:177904 ORPHA:95699 OMIM:619146
 

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