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 morphology (HP:0005105)

Parent Node:
Abnormal nasal septum morphology (HP:0000419)

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

..Starting node
..Aplasia/Hypoplasia of the nasal septum (HP:0009935)

Term ID:

9935

Name:

Aplasia/Hypoplasia of the nasal septum

Synonym:

Ageneis of nasal septum; Failure of development of nasal septum; Underdevelopment of nasal septum

Definition:

Absence or underdevelopment of the nasal septum.

Comments:

Reference:

HP:0009935

Genes and Diseases:

Child Nodes:

........

Hypoplastic nasal septum (HP:0005104)

........

Absent nasal septal cartilage (HP:0005273)

Sister Nodes:

Aplasia of the nose (HP:0009927)

Hypoplasia of the nasal bone (HP:0004646)

Underdeveloped nasal alae (HP:0000430)

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:0009935	HP:0009935	Aplasia/Hypoplasia of the nasal septum	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0009935	HP:0009935	Aplasia/Hypoplasia of the nasal septum	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22
HP:0009935	HP:0009935	Aplasia/Hypoplasia of the nasal septum	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0009935	HP:0009935	Aplasia/Hypoplasia of the nasal septum	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0009935	HP:0009935	Aplasia/Hypoplasia of the nasal septum	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:0009935	HP:0005104	Hypoplastic nasal septum	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0009935	HP:0005104	Hypoplastic nasal septum	1	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1	.	22
HP:0009935	HP:0005273	Absent nasal septal cartilage	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0009935	HP:0005273	Absent nasal septal cartilage	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0009935	HP:0005273	Absent nasal septal cartilage	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32

Genes (5) :FLNB NOG PTCH1 SIX3 TGIF1

Diseases (5) :OMIM:112310 OMIM:186500 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.