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
..Fullness of paranasal tissue (HP:0012812)

Term ID:

12812

Name:

Fullness of paranasal tissue

Synonym:

Fullness of tissue around the nose; Hyperplasia of paranasal tissue; Hypertrophy of paranasal tissue; Laterally built up nose; Paranasal fullness; Thick paranasal tissue; Thick tissue around the nose

Definition:

Increased bulk of tissue alongside the nose. The fullness can be caused by both bony and soft tissues.

Comments:

Reference:

HP:0012812

Genes and Diseases:

Child Nodes:

........

Bony paranasal bossing (HP:0004407)

Sister Nodes:

Anteverted nares (HP:0000463)

Aplasia/Hypoplasia involving the nose (HP:0009924)

Bulbous nose (HP:0000414)

Long nose (HP:0003189)

Midline defect of the nose (HP:0004122)

Narrow nose (HP:0000460)

Pear-shaped nose (HP:0000447)

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:0012812	HP:0012812	Fullness of paranasal tissue	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0012812	HP:0012812	Fullness of paranasal tissue	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive		68
HP:0012812	HP:0004407	Bony paranasal bossing	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0012812	HP:0004407	Bony paranasal bossing	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.	68

Genes (2) :ANKH GJA1

Diseases (2) :OMIM:123000 OMIM:218400

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

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