Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal circulating hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating antimullerian hormone concentration (HP:0031101)

..Starting node
..Increased antimullerian hormone level (HP:0031102)

Term ID:

31102

Name:

Increased antimullerian hormone level

Synonym:

Increased plasma AMH

Definition:

An elevation above the normal range of the antimullerian hormone in the circulation.

Comments:

Reference:

HP:0031102

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased antimullerian hormone level (HP:0031103)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031102	HP:0031102	Increased antimullerian hormone level	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040282 - Frequent	125
HP:0031102	HP:0031102	Increased antimullerian hormone level	0	AR CL E G H	367	644	ORPHA:90797	Partial androgen insensitivity syndrome	HP:0040281 - Very frequent	125

Genes (1) :AR

Diseases (2) :ORPHA:99429 ORPHA:90797

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