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 columella morphology (HP:0009929)

..Starting node
..Low insertion of columella (HP:0010763)

Term ID:

10763

Name:

Low insertion of columella

Synonym:

Ala higher than columella; Columella, low insertion

Definition:

Insertion of the posterior columella below the nasal base.

Comments:

Reference:

HP:0010763

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad columella (HP:0010761)

High insertion of columella (HP:0012807)

Low hanging columella (HP:0009765)

Short columella (HP:0002000)

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:0010763	HP:0010763	Low insertion of columella	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0010763	HP:0010763	Low insertion of columella	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0010763	HP:0010763	Low insertion of columella	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0010763	HP:0010763	Low insertion of columella	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	.	39

Genes (4) :ALG9 MADD SMG9 TSPEAR

Diseases (4) :ORPHA:79328 OMIM:619005 OMIM:619995 OMIM:618180

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