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 respiratory system physiology (HP:0002795)

Parent Node:
Abnormality on pulmonary function testing (HP:0030878)

Parent Node:
Respiratory insufficiency (HP:0002093)

Parent Node:
Restrictive ventilatory defect (HP:0002091)

..Starting node
..obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Term ID:

2111

Name:

obsolete Restrictive deficit on pulmonary function testing

Synonym:

Definition:

Comments:

Reference:

HP:0002111

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002111	HP:0002111	obsolete Restrictive deficit on pulmonary function testing	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.