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 skeletal morphology (HP:0011842)

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

Parent Node:
Abnormal nasal skeleton morphology (HP:0010937)

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

..Starting node
..Abnormality nasal septum cartilage morphology (HP:3000034)

Term ID:

3000034

Name:

Abnormality nasal septum cartilage morphology

Synonym:

Abnormality of cartilage of nasal septum; Abnormality of cartilage of septum of nose; Anomaly of cartilage of nasal septum; Deformity of cartilage of nasal septum; Malformation of cartilage of nasal septum

Definition:

An abnormality of a cartilage of nasal septum.

Comments:

Reference:

HP:3000034

Genes and Diseases:

Child Nodes:

........

Absent nasal septal cartilage (HP:0005273)

Sister Nodes:

Abnormal cricoid cartilage morphology (HP:3000038)

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:3000034	HP:3000034	Abnormality nasal septum cartilage morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:3000034	HP:3000034	Abnormality nasal septum cartilage morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:3000034	HP:3000034	Abnormality nasal septum cartilage morphology	0	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4		32
HP:3000034	HP:3000034	Abnormality nasal septum cartilage morphology	0	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35
HP:3000034	HP:0005273	Absent nasal septal cartilage	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:3000034	HP:0005273	Absent nasal septal cartilage	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:3000034	HP:0005273	Absent nasal septal cartilage	1	TGIF1 CL E G H	7050	11776	OMIM:142946	Holoprosencephaly 4	.	32
HP:3000034	HP:0033380	Nasal chondritis	1	UBA1 CL E G H	7317	12469	OMIM:301054	VEXAS SYNDROME; VEXAS		35

Genes (4) :PTCH1 SIX3 TGIF1 UBA1

Diseases (4) :OMIM:610828 OMIM:157170 OMIM:142946 OMIM:301054

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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