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 nose (HP:0000366)

Parent Node:
Abnormal nasal morphology (HP:0005105)

..Starting node
..Pear-shaped nose (HP:0000447)

Term ID:

447

Name:

Pear-shaped nose

Synonym:

Pear-shaped nose

Definition:

Comments:

Reference:

HP:0000447

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Aplasia/Hypoplasia involving the nose (HP:0009924)

Bulbous nose (HP:0000414)

Fullness of paranasal tissue (HP:0012812)

Long nose (HP:0003189)

Midline defect of the nose (HP:0004122)

Narrow nose (HP:0000460)

Proboscis (HP:0012806)

Prominent nose (HP:0000448)

Pyriform aperture stenosis (HP:0025011)

Short nose (HP:0003196)

Slender nose (HP:0000417)

Wide nose (HP:0000445)

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:0000447	HP:0000447	Pear-shaped nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040281 - Very frequent	283
HP:0000447	HP:0000447	Pear-shaped nose	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0000447	HP:0000447	Pear-shaped nose	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040281 - Very frequent	283
HP:0000447	HP:0000447	Pear-shaped nose	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	171
HP:0000447	HP:0000447	Pear-shaped nose	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.	171

Genes (2) :KANSL1 TRPS1

Diseases (5) :ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:190350 OMIM:190351

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