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:
Short digit (HP:0011927)

Parent Node:
Brachydactyly (HP:0001156)

..Starting node
..Type C brachydactyly (HP:0009373)

Term ID:

9373

Name:

Type C brachydactyly

Synonym:

Definition:

Comments:

Reference:

HP:0009373

Genes and Diseases:

Child Nodes:

Sister Nodes:

Brachytelomesophalangy (HP:0005872)

Type A brachydactyly (HP:0009370)

Type B brachydactyly (HP:0005831)

Type D brachydactyly (HP:0005627)

Type E brachydactyly (HP:0005863)

Unilateral brachydactyly (HP:0006008)

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:0009373	HP:0009373	Type C brachydactyly	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	90
HP:0009373	HP:0009373	Type C brachydactyly	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040281 - Very frequent	52

Genes (2) :BMPR1B GDF5

Diseases (1) :ORPHA:93384

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