Human Phenotype Ontology

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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
..Decreased antimullerian hormone level (HP:0031103)

Term ID:

31103

Name:

Decreased antimullerian hormone level

Synonym:

Decreased plasma AMH

Definition:

A reduction below the normal range of the antimullerian hormone in the circulation.

Comments:

Reference:

HP:0031103

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased antimullerian hormone level (HP:0031102)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	AMH CL E G H	268	464	OMIM:261550	Persistent mullerian duct syndrome, types I and II	9
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	AMHR2 CL E G H	269	465	OMIM:261550	Persistent mullerian duct syndrome, types I and II	8
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	C14ORF39 CL E G H	317761	19849	OMIM:619203	PREMATURE OVARIAN FAILURE 18; POF18
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	DHX37 CL E G H	57647	17210	OMIM:273250	46, XY sex reversal 11	2
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	SPIDR CL E G H	23514	28971	OMIM:619665	OVARIAN DYSGENESIS 9; ODG9	2
HP:0031103	HP:0031103	Decreased antimullerian hormone level	0	XRCC2 CL E G H	7516	12829	OMIM:619146	PREMATURE OVARIAN FAILURE 17; POF17	125

Genes (6) :AMH AMHR2 C14ORF39 DHX37 SPIDR XRCC2

Diseases (5) :OMIM:261550 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.