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 nasal septum morphology (HP:0000419)

Grandparent Node:
Aplasia/Hypoplasia involving the nose (HP:0009924)

Parent Node:
Abnormality nasal septum cartilage morphology (HP:3000034)

Parent Node:
Aplasia/Hypoplasia of the nasal septum (HP:0009935)

..Starting node
..Absent nasal septal cartilage (HP:0005273)

Term ID:

5273

Name:

Absent nasal septal cartilage

Synonym:

Absent nasal septal cartilage; Absent nasal septum; Ageneis of nasal septal cartilage; Failure of development of nasal septal cartilage

Definition:

Lack of the cartilage of the nasal septum.

Comments:

Reference:

HP:0005273

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic nasal septum (HP:0005104)

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:0005273	HP:0005273	Absent nasal septal cartilage	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0005273	HP:0005273	Absent nasal septal cartilage	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0005273	HP:0005273	Absent nasal septal cartilage	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32

Genes (3) :PTCH1 SIX3 TGIF1

Diseases (3) :OMIM:610828 OMIM:157170 OMIM:142946

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