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:
Abnormality of the uterus (HP:0000130)

Parent Node:
Abnormal uterine cervix morphology (HP:0012888)

..Starting node
..Cervical agenesis (HP:0030008)

Term ID:

30008

Name:

Cervical agenesis

Synonym:

Absent cervix; Aplasia of the cervix; Cervical aplasia

Definition:

Congenital absence of the cervix.

Comments:

Reference:

HP:0030008

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical ectropion (HP:0030158)

Cervical endometriosis (HP:0012889)

Cervical insufficiency (HP:0030009)

Cervical polyp (HP:0030159)

Cervicitis (HP:0030160)

Cervix cancer (HP:0030079)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030008	HP:0030008	Cervical agenesis	0	CL E G H

Genes (0) :

Diseases (0) :

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