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:
Abnormality of the spleen (HP:0001743)

Parent Node:
Abnormal spleen morphology (HP:0025408)

..Starting node
..Splenic rupture (HP:0012223)

Term ID:

12223

Name:

Splenic rupture

Synonym:

Ruptured spleen; Splenic rupture

Definition:

A breach of the capsule of the spleen.

Comments:

Reference:

HP:0012223

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the spleen (HP:0010451)

Ectopia of the spleen (HP:0010452)

Hepatosplenomegaly (HP:0001433)

Splenic abscess (HP:0025059)

Splenic cyst (HP:0030423)

Splenogonadal fusion (HP:0025410)

Splenomegaly (HP:0001744)

Supernumerary spleens (HP:0009799)

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:0012223	HP:0012223	Splenic rupture	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	47
HP:0012223	HP:0012223	Splenic rupture	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	62
HP:0012223	HP:0012223	Splenic rupture	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.	34

Genes (3) :FGA FGB FGG

Diseases (1) :OMIM:202400

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