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:
Abnormality of the nose (HP:0000366)

Grandparent Node:
Abnormality of the skeletal system (HP:0000924)

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

..Starting node
..Abnormal nasal bone morphology (HP:0010939)

Term ID:

10939

Name:

Abnormal nasal bone morphology

Synonym:

Abnormality of the nasal bone; Anomaly of the nasal bones; Deformity of the nasal bones; Malformation of the nasal bones

Definition:

An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone.

Comments:

Reference:

HP:0010939

Genes and Diseases:

Child Nodes:

........

Aplasia/Hypoplasia of the nasal bone (HP:0010940)

................... HP:0004646 Hypoplasia of the nasal bone
................... HP:0010941 Aplasia of the nasal bone

Sister Nodes:

Abnormality nasal septum cartilage morphology (HP:3000034)

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:0010939	HP:0010939	Abnormal nasal bone morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	276
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040284 - Very rare	88
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010939	HP:0010939	Abnormal nasal bone morphology	0	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG		78
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance		113
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance		134
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0010939	HP:0010940	Aplasia/Hypoplasia of the nasal bone	1	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG		78
HP:0010939	HP:0010941	Aplasia of the nasal bone	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0010939	HP:0004646	Hypoplasia of the nasal bone	2	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0010939	HP:0010941	Aplasia of the nasal bone	2	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0010939	HP:0004646	Hypoplasia of the nasal bone	2	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0010939	HP:0010941	Aplasia of the nasal bone	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0010939	HP:0004646	Hypoplasia of the nasal bone	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010939	HP:0010941	Aplasia of the nasal bone	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0010939	HP:0004646	Hypoplasia of the nasal bone	2	USH1G CL E G H	124590	16356	OMIM:606943	Usher syndrome, type IG	.	78

Genes (10) :ALX4 BRAF CTNNB1 PDE4D PPP1R12A PRKAR1A SIX3 SLC25A24 TONSL USH1G

Diseases (8) :OMIM:613451 ORPHA:54595 ORPHA:280651 OMIM:618820 OMIM:157170 ORPHA:2095 ORPHA:93357 OMIM:606943

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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