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
..Congenital pulmonary airway malformation (HP:0010959)

Term ID:

10959

Name:

Congenital pulmonary airway malformation

Synonym:

CCAM; Congenital cystic adenomatoid malformation of the lung; Congenital cystic disease of the lung; Cystic adenomatoid lung disease

Definition:

Congenital pulmonary airway malformation (CPAM) - previously known as congenital cystic adenomatoid malformation (CCAM) - is a relatively rare developmental malformation of the lower respiratory tract. It is a hamartomatous, dysplastic developmental abnormality of the lung characterized by abnormal airway patterning during lung branching morphogenesis and is formed by abnormal branching of the immature bronchioles.

Comments:

Reference:

HP:0010959

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fibrocystic lung disease (HP:0006552)

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:0010959	HP:0010959	Congenital pulmonary airway malformation	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	11
HP:0010959	HP:0010959	Congenital pulmonary airway malformation	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare	26
HP:0010959	HP:0010959	Congenital pulmonary airway malformation	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome		26
HP:0010959	HP:0025726	Type 2 congenital pulmonary airway malformation	1	CL E G H
HP:0010959	HP:0025725	Type 1 congenital pulmonary airway malformation	1	CL E G H
HP:0010959	HP:0025727	Type 3 congenital pulmonary airway malformation	1	CL E G H

Genes (2) :PI4KA TTC7A

Diseases (2) :ORPHA:436252 OMIM:243150

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

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