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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal larynx morphology (HP:0025423)

Parent Node:
obsolete Abnormality of cartilage morphology (HP:0410007)

..Starting node
..Abnormal cricoid cartilage morphology (HP:3000038)

Term ID:

3000038

Name:

Abnormal cricoid cartilage morphology

Synonym:

Abnormality of cricoid cartilage

Definition:

Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx.

Comments:

Reference:

HP:3000038

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality nasal septum cartilage morphology (HP:3000034)

Abnormality of cartilage of external ear (HP:3000022)

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:3000038	HP:3000038	Abnormal cricoid cartilage morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19

Genes (1) :PUF60

Diseases (1) :ORPHA:508488

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