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 vascular morphology (HP:0025015)

Grandparent Node:
Abnormality of the lymphatic system (HP:0100763)

Parent Node:
Abnormal lymphatic vessel morphology (HP:0100766)

..Starting node
..Hypoplasia of lymphatic vessels (HP:0003759)

Term ID:

3759

Name:

Hypoplasia of lymphatic vessels

Synonym:

Underdeveloped lymphatic vessels

Definition:

Congenital underdevelopment of lymph vessels.

Comments:

Reference:

HP:0003759

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal thoracic duct morphology (HP:0031278)

Aplasia of lymphatic vessels (HP:0045006)

Lymphangiectasis (HP:0031842)

Lymphatic vessel neoplasm (HP:0012797)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003759	HP:0003759	Hypoplasia of lymphatic vessels	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1	90

Genes (1) :FLT4

Diseases (1) :OMIM:153100

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