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 digestive system (HP:0025031)

Parent Node:
Abnormal abdomen morphology (HP:0001438)

..Starting node
..Duplication of internal organs (HP:0005217)

Term ID:

5217

Name:

Duplication of internal organs

Synonym:

Definition:

Comments:

Reference:

HP:0005217

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abdominal aseptic abscess (HP:0025181)

Abdominal mass (HP:0031500)

Ascites (HP:0001541)

Pelvic mass (HP:0031501)

Pelvic organ prolapse (HP:0031607)

Visceromegaly (HP:0003271)

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:0005217	HP:0005217	Duplication of internal organs	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0005217	HP:0005217	Duplication of internal organs	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12

Genes (2) :NIPBL TFAP2A

Diseases (2) :OMIM:122470 OMIM:113620

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