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
..Broad columella (HP:0010761)

Term ID:

10761

Name:

Broad columella

Synonym:

Columella, broad; Columella, wide; Fullness of columella; Hyperplasia of columella; Increased width of columella

Definition:

Increased width of the columella.

Comments:

Reference:

HP:0010761

Genes and Diseases:

Child Nodes:

Sister Nodes:

High insertion of columella (HP:0012807)

Low hanging columella (HP:0009765)

Low insertion of columella (HP:0010763)

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:0010761	HP:0010761	Broad columella	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0010761	HP:0010761	Broad columella	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0010761	HP:0010761	Broad columella	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0010761	HP:0010761	Broad columella	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0010761	HP:0010761	Broad columella	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0010761	HP:0010761	Broad columella	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0010761	HP:0010761	Broad columella	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0010761	HP:0010761	Broad columella	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0010761	HP:0010761	Broad columella	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0010761	HP:0010761	Broad columella	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0010761	HP:0010761	Broad columella	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0010761	HP:0010761	Broad columella	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0010761	HP:0010761	Broad columella	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0010761	HP:0010761	Broad columella	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0010761	HP:0010761	Broad columella	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (13) :ALX4 ATP6V1E1 CKAP2L CWC27 EXOSC2 FLI1 GJA1 H4C5 HDAC4 PIK3C2A PPP1R21 RDH11 ZSWIM6

Diseases (15) :OMIM:613451 OMIM:617402 ORPHA:3255 ORPHA:166035 OMIM:250410 OMIM:617763 ORPHA:2308 ORPHA:2710 OMIM:619950 ORPHA:1001 ORPHA:557003 OMIM:618440 OMIM:619383 ORPHA:436245 OMIM:617865

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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