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 lymphatic vessel morphology (HP:0100766)

Parent Node:
Abnormal intestine morphology (HP:0002242)

Parent Node:
Lymphangiectasis (HP:0031842)

..Starting node
..Intestinal lymphangiectasia (HP:0002593)

Term ID:

2593

Name:

Intestinal lymphangiectasia

Synonym:

Definition:

Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines.

Comments:

Reference:

HP:0002593

Genes and Diseases:

Child Nodes:

Sister Nodes:

Pancreatic lymphangiectasis (HP:0006273)

Pericardial lymphangiectasia (HP:0005183)

Pleural lymphangiectasia (HP:0006531)

Pulmonary lymphangiectasia (HP:0006521)

Thyroid lymphangiectasia (HP:0008229)

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:0002593	HP:0002593	Intestinal lymphangiectasia	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0002593	HP:0002593	Intestinal lymphangiectasia	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2		114
HP:0002593	HP:0002593	Intestinal lymphangiectasia	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III		36

Genes (3) :CCBE1 FAT4 PIEZO1

Diseases (3) :OMIM:235510 OMIM:616006 OMIM:616843

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