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:
Abnormal mandible morphology (HP:0000277)

Parent Node:
Abnormality of the temporomandibular joint (HP:0010754)

..Starting node
..Temporomandibular joint ankylosis (HP:0012478)

Term ID:

12478

Name:

Temporomandibular joint ankylosis

Synonym:

Adhesion of the temporomandibular joint; Ankylosis of temporomandibular joint; Freezing of jaw joint; Freezing of the temporomandibular joint; Rigidity of the temporomandibular joint; Temporomandibular joint fusion

Definition:

Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening.

Comments:

Reference:

HP:0012478

Genes and Diseases:

Child Nodes:

Sister Nodes:

Temporomandibular joint crepitus (HP:0012479)

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:0012478	HP:0012478	Temporomandibular joint ankylosis	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0012478	HP:0012478	Temporomandibular joint ankylosis	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0012478	HP:0012478	Temporomandibular joint ankylosis	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0012478	HP:0012478	Temporomandibular joint ankylosis	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0012478	HP:0012478	Temporomandibular joint ankylosis	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0012478	HP:0012478	Temporomandibular joint ankylosis	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83

Genes (4) :IDS LMNA SF3B4 ZMPSTE24

Diseases (5) :ORPHA:217093 ORPHA:217085 ORPHA:1662 OMIM:154400 OMIM:275210

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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