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 antimullerian hormone concentration (HP:0031101)help
Term ID: 31101
Name: Abnormal circulating antimullerian hormone concentration
Synonym: Abnormal antimullerian hormone level
Definition: Any deviation from the normal range of the antimullerian hormone, a peptide produced by the granulosa cells of follicles. Anti-Mullerian hormone (AMH), also known as Mullerian inhibiting substance, is produced by the granulosa cells of small antral follicles of the ovary. AMH has an inhibiting role in the ovary, contributing to follicular arrest. AMH levels in women are low until the age of 8, rise rapidly until puberty and decline steadily from the age of 25 until menopause, when AMH production ceases.
Comments:
Reference: HP:0031101
Genes and Diseases:
 
       Child Nodes:
........expandIncreased antimullerian hormone level (HP:0031102) help
........expandDecreased antimullerian hormone level (HP:0031103) 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 estrogen level (HP:0025132) help
..expandAbnormal circulating gonadotropin concentration (HP:0030338) help
..expandAbnormal circulating inhibin level (HP:0031099) 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:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0SPIDR CL E G H2351428971OMIM:619665OVARIAN DYSGENESIS 9; ODG92
HP:0031101HP:0031101Abnormal circulating antimullerian hormone concentration0XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125
HP:0031101HP:0031103Decreased antimullerian hormone level1AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0031101HP:0031103Decreased antimullerian hormone level1AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0031101HP:0031102Increased antimullerian hormone level1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0031101HP:0031102Increased antimullerian hormone level1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0031101HP:0031103Decreased antimullerian hormone level1C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0031101HP:0031103Decreased antimullerian hormone level1DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0031101HP:0031103Decreased antimullerian hormone level1SPIDR CL E G H2351428971OMIM:619665OVARIAN DYSGENESIS 9; ODG92
HP:0031101HP:0031103Decreased antimullerian hormone level1XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125


Genes (7) :AMH AMHR2 AR C14ORF39 DHX37 SPIDR XRCC2

Diseases (7) :OMIM:261550 ORPHA:99429 ORPHA:90797 OMIM:619203 OMIM:273250 OMIM:619665 OMIM:619146
 

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