Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal jaw morphology (HP:0030791)

Parent Node:
Abnormal mandible morphology (HP:0000277)

..Starting node
..Obtuse angle of mandible (HP:0005446)

Term ID:

5446

Name:

Obtuse angle of mandible

Synonym:

High mandibular plane angle; Steep mandibular plane angle

Definition:

Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal.

Comments:

Reference:

HP:0005446

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal mandible condylar process morphology (HP:3000077)

Abnormal mandible coronoid process morphology (HP:3000078)

Abnormal mandibular ramus morphology (HP:3000003)

Abnormality of the temporomandibular joint (HP:0010754)

Aplasia/Hypoplasia of the mandible (HP:0009118)

Asymmetry of the mandible (HP:0009940)

Broad jaw (HP:0012802)

Fibrous syngnathia (HP:0009754)

Giant cell granuloma of mandible (HP:0100955)

Increased size of the mandible (HP:0040309)

Jaw ankylosis (HP:0040263)

Mandibular osteomyelitis (HP:0007626)

Mandibular pain (HP:0200025)

Mandibular prognathia (HP:0000303)

Midline defect of mandible (HP:0010753)

Narrow jaw (HP:0012801)

Recurrent mandibular subluxations (HP:0005332)

Retrognathia (HP:0000278)

Trismus (HP:0000211)

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:0005446	HP:0005446	Obtuse angle of mandible	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0005446	HP:0005446	Obtuse angle of mandible	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0005446	HP:0005446	Obtuse angle of mandible	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional

Genes (3) :CTSK FLNA TONSL

Diseases (3) :ORPHA:763 OMIM:309350 ORPHA:93357

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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