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 external nose morphology (HP:0010938)

Parent Node:
Abnormal morphology of the nasal alae (HP:0000429)

..Starting node
..Flat nasal alae (HP:0010649)

Term ID:

10649

Name:

Flat nasal alae

Synonym:

Depressed nasal alae; Flat nasal alar cartilage

Definition:

An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae).

Comments:

Reference:

HP:0010649

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anteverted nares (HP:0000463)

Cartilaginous ossification of nose (HP:0005275)

Cleft ala nasi (HP:0003191)

Flared nostrils (HP:0000454)

Thick nasal alae (HP:0009928)

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:0010649	HP:0010649	Flat nasal alae	0	DDB2 CL E G H	1643	2718	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	30
HP:0010649	HP:0010649	Flat nasal alae	0	ERCC2 CL E G H	2068	3434	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	106
HP:0010649	HP:0010649	Flat nasal alae	0	ERCC3 CL E G H	2071	3435	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	54
HP:0010649	HP:0010649	Flat nasal alae	0	ERCC4 CL E G H	2072	3436	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	158
HP:0010649	HP:0010649	Flat nasal alae	0	ERCC5 CL E G H	2073	3437	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	83
HP:0010649	HP:0010649	Flat nasal alae	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7	.	665
HP:0010649	HP:0010649	Flat nasal alae	0	XPA CL E G H	7507	12814	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	34
HP:0010649	HP:0010649	Flat nasal alae	0	XPC CL E G H	7508	12816	ORPHA:910	Xeroderma pigmentosum	HP:0040283 - Occasional	86

Genes (8) :DDB2 ERCC2 ERCC3 ERCC4 ERCC5 PTCH1 XPA XPC

Diseases (2) :ORPHA:910 OMIM:610828

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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