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 hanging columella (HP:0009765)

Term ID:

9765

Name:

Low hanging columella

Synonym:

Columella extends below the ala nasi; Columella, low; Columella, low hanging; Extension of the columella below the ala nasi; Low-hanging columella; Prominent columella; Rounded columella

Definition:

Columella extending inferior to the level of the nasal base, when viewed from the side.

Comments:

Reference:

HP:0009765

Genes and Diseases:

Child Nodes:

Sister Nodes:

Broad columella (HP:0010761)

High insertion of columella (HP:0012807)

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:0009765	HP:0009765	Low hanging columella	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009765	HP:0009765	Low hanging columella	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0009765	HP:0009765	Low hanging columella	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0009765	HP:0009765	Low hanging columella	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0009765	HP:0009765	Low hanging columella	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009765	HP:0009765	Low hanging columella	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0009765	HP:0009765	Low hanging columella	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009765	HP:0009765	Low hanging columella	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0009765	HP:0009765	Low hanging columella	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0009765	HP:0009765	Low hanging columella	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009765	HP:0009765	Low hanging columella	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009765	HP:0009765	Low hanging columella	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0009765	HP:0009765	Low hanging columella	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0009765	HP:0009765	Low hanging columella	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0009765	HP:0009765	Low hanging columella	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009765	HP:0009765	Low hanging columella	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009765	HP:0009765	Low hanging columella	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0009765	HP:0009765	Low hanging columella	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0009765	HP:0009765	Low hanging columella	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0009765	HP:0009765	Low hanging columella	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009765	HP:0009765	Low hanging columella	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009765	HP:0009765	Low hanging columella	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009765	HP:0009765	Low hanging columella	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0009765	HP:0009765	Low hanging columella	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0009765	HP:0009765	Low hanging columella	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009765	HP:0009765	Low hanging columella	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0009765	HP:0009765	Low hanging columella	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009765	HP:0009765	Low hanging columella	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0009765	HP:0009765	Low hanging columella	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009765	HP:0009765	Low hanging columella	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0009765	HP:0009765	Low hanging columella	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0009765	HP:0009765	Low hanging columella	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0009765	HP:0009765	Low hanging columella	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0009765	HP:0009765	Low hanging columella	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009765	HP:0009765	Low hanging columella	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0009765	HP:0009765	Low hanging columella	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009765	HP:0009765	Low hanging columella	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009765	HP:0009765	Low hanging columella	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0009765	HP:0009765	Low hanging columella	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0009765	HP:0009765	Low hanging columella	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0009765	HP:0009765	Low hanging columella	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0009765	HP:0009765	Low hanging columella	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009765	HP:0009765	Low hanging columella	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0009765	HP:0009765	Low hanging columella	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0009765	HP:0009765	Low hanging columella	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009765	HP:0009765	Low hanging columella	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009765	HP:0009765	Low hanging columella	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0009765	HP:0009765	Low hanging columella	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0009765	HP:0009765	Low hanging columella	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0009765	HP:0009765	Low hanging columella	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0009765	HP:0009765	Low hanging columella	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0009765	HP:0009765	Low hanging columella	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent	7
HP:0009765	HP:0009765	Low hanging columella	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0009765	HP:0009765	Low hanging columella	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0009765	HP:0009765	Low hanging columella	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0009765	HP:0009765	Low hanging columella	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009765	HP:0009765	Low hanging columella	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4

Genes (47) :AFF3 AIMP2 ASXL3 ATN1 BICRA CAPN15 CDC42BPB CDH11 CKAP2L CLCN3 CREBBP CTNNB1 EDEM3 EP300 GJA1 GJA5 GJA8 H3-3B HIVEP2 HNRNPH2 HNRNPR ITCH KAT6A KDM3B KDM5B KMT5B LIFR MGAT2 NOG PCDHGC4 POC1A PPP1R21 PQBP1 RAC1 RYR1 SMARCA2 SOX11 SRCAP TAF6 TBCD THOC6 TRIO TRIP12 UBE2A ZEB2 ZMIZ1 ZNF148

Diseases (55) :OMIM:619297 OMIM:618006 ORPHA:352577 OMIM:618494 OMIM:619325 OMIM:619318 OMIM:619841 OMIM:211380 OMIM:272440 OMIM:619512 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:404473 OMIM:619493 OMIM:613684 ORPHA:353284 OMIM:164200 OMIM:612474 OMIM:619721 OMIM:616977 OMIM:300986 OMIM:620073 OMIM:613385 OMIM:616268 OMIM:618846 OMIM:618109 OMIM:617788 OMIM:601559 OMIM:212066 ORPHA:79329 OMIM:184460 OMIM:619880 OMIM:614813 OMIM:619383 OMIM:309500 OMIM:617751 ORPHA:500159 OMIM:619542 OMIM:601358 OMIM:615866 ORPHA:2044 OMIM:136140 OMIM:617126 OMIM:617193 OMIM:613680 ORPHA:363444 OMIM:618825 OMIM:617752 ORPHA:163956 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:617260

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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