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 lung morphology (HP:0002088)

Parent Node:
Multiple pulmonary cysts (HP:0005948)

..Starting node
..Fibrocystic lung disease (HP:0006552)

Term ID:

6552

Name:

Fibrocystic lung disease

Synonym:

Definition:

Comments:

Reference:

HP:0006552

Genes and Diseases:

Child Nodes:

Sister Nodes:

Congenital pulmonary airway malformation (HP:0010959)

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:0006552	HP:0006552	Fibrocystic lung disease	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.	1

Genes (1) :SREBF1

Diseases (1) :OMIM:158310

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