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:
Hemangioma (HP:0001028)

Parent Node:
Abnormality of the pulmonary vasculature (HP:0004930)

Parent Node:
Capillary hemangioma (HP:0005306)

Parent Node:
Hemangiomatosis (HP:0007461)

..Starting node
..Pulmonary capillary hemangiomatosis (HP:0005954)

Term ID:

5954

Name:

Pulmonary capillary hemangiomatosis

Synonym:

Pulmonary hemangiomas

Definition:

Comments:

Reference:

HP:0005954

Genes and Diseases:

Child Nodes:

Sister Nodes:

Visceral angiomatosis (HP:0100761)

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:0005954	HP:0005954	Pulmonary capillary hemangiomatosis	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0005954	HP:0005954	Pulmonary capillary hemangiomatosis	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040281 - Very frequent	40
HP:0005954	HP:0005954	Pulmonary capillary hemangiomatosis	0	EIF2AK4 CL E G H	440275	19687	OMIM:234810	PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2		40
HP:0005954	HP:0005954	Pulmonary capillary hemangiomatosis	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (3) :CCND1 EIF2AK4 VHL

Diseases (3) :OMIM:193300 ORPHA:199241 OMIM:234810

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