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 palate morphology (HP:0000174)

Parent Node:
Abnormal soft palate morphology (HP:0100736)

..Starting node
..Absent soft palate (HP:0031046)

Term ID:

31046

Name:

Absent soft palate

Synonym:

Agenesis of the soft palate

Definition:

A developmental defect characterized by lack of a soft palate.

Comments:

Reference:

HP:0031046

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal uvula morphology (HP:0000172)

Abnormality of musculature of soft palate (HP:0430014)

Cleft soft palate (HP:0000185)

Velopharyngeal insufficiency (HP:0000220)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031046	HP:0031046	Absent soft palate	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.