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)

Parent Node:
Abnormal external nose morphology (HP:0010938)

..Starting node
..Abnormal columella morphology (HP:0009929)

Term ID:

9929

Name:

Abnormal columella morphology

Synonym:

Abnormality of the columella; Anomaly of the columella; Deformity of the columella; Malformation of the columella

Definition:

A structural abnormality of the columella.

Comments:

Reference:

HP:0009929

Genes and Diseases:

Child Nodes:

........

Short columella (HP:0002000)

........

Low hanging columella (HP:0009765)

........

Broad columella (HP:0010761)

........

Low insertion of columella (HP:0010763)

........

High insertion of columella (HP:0012807)

Sister Nodes:

Abnormal morphology of the nasal alae (HP:0000429)

Abnormal nasal cartilage morphology (HP:0030027)

Abnormal nasal dorsum morphology (HP:0011119)

Abnormal nasal tip morphology (HP:0000436)

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:0009929	HP:0009929	Abnormal columella morphology	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		72
HP:0009929	HP:0009929	Abnormal columella morphology	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome		123
HP:0009929	HP:0009929	Abnormal columella morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009929	HP:0009929	Abnormal columella morphology	0	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17		1
HP:0009929	HP:0009929	Abnormal columella morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0009929	HP:0009929	Abnormal columella morphology	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1		9
HP:0009929	HP:0009929	Abnormal columella morphology	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0009929	HP:0009929	Abnormal columella morphology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0009929	HP:0009929	Abnormal columella morphology	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0009929	HP:0009929	Abnormal columella morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0009929	HP:0009929	Abnormal columella morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0009929	HP:0009929	Abnormal columella morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome		36
HP:0009929	HP:0009929	Abnormal columella morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0009929	HP:0009929	Abnormal columella morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009929	HP:0009929	Abnormal columella morphology	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0009929	HP:0009929	Abnormal columella morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0009929	HP:0009929	Abnormal columella morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome		7
HP:0009929	HP:0009929	Abnormal columella morphology	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome		7
HP:0009929	HP:0009929	Abnormal columella morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009929	HP:0009929	Abnormal columella morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009929	HP:0009929	Abnormal columella morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0009929	HP:0009929	Abnormal columella morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0009929	HP:0009929	Abnormal columella morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder		20
HP:0009929	HP:0009929	Abnormal columella morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome		88
HP:0009929	HP:0009929	Abnormal columella morphology	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0009929	HP:0009929	Abnormal columella morphology	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009929	HP:0009929	Abnormal columella morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0009929	HP:0009929	Abnormal columella morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0009929	HP:0009929	Abnormal columella morphology	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009929	HP:0009929	Abnormal columella morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009929	HP:0009929	Abnormal columella morphology	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0009929	HP:0009929	Abnormal columella morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0009929	HP:0009929	Abnormal columella morphology	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome		12
HP:0009929	HP:0009929	Abnormal columella morphology	0	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies
HP:0009929	HP:0009929	Abnormal columella morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0009929	HP:0009929	Abnormal columella morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia		68
HP:0009929	HP:0009929	Abnormal columella morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia		68
HP:0009929	HP:0009929	Abnormal columella morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009929	HP:0009929	Abnormal columella morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009929	HP:0009929	Abnormal columella morphology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009929	HP:0009929	Abnormal columella morphology	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009929	HP:0009929	Abnormal columella morphology	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome		33
HP:0009929	HP:0009929	Abnormal columella morphology	0	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0009929	HP:0009929	Abnormal columella morphology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0009929	HP:0009929	Abnormal columella morphology	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009929	HP:0009929	Abnormal columella morphology	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0009929	HP:0009929	Abnormal columella morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009929	HP:0009929	Abnormal columella morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0009929	HP:0009929	Abnormal columella morphology	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome		11
HP:0009929	HP:0009929	Abnormal columella morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0009929	HP:0009929	Abnormal columella morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome		53
HP:0009929	HP:0009929	Abnormal columella morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0009929	HP:0009929	Abnormal columella morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome		660
HP:0009929	HP:0009929	Abnormal columella morphology	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0009929	HP:0009929	Abnormal columella morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0009929	HP:0009929	Abnormal columella morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0009929	HP:0009929	Abnormal columella morphology	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009929	HP:0009929	Abnormal columella morphology	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009929	HP:0009929	Abnormal columella morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa		39
HP:0009929	HP:0009929	Abnormal columella morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0009929	HP:0009929	Abnormal columella morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0009929	HP:0009929	Abnormal columella morphology	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome		23
HP:0009929	HP:0009929	Abnormal columella morphology	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay		48
HP:0009929	HP:0009929	Abnormal columella morphology	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009929	HP:0009929	Abnormal columella morphology	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0009929	HP:0009929	Abnormal columella morphology	0	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome
HP:0009929	HP:0009929	Abnormal columella morphology	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009929	HP:0009929	Abnormal columella morphology	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009929	HP:0009929	Abnormal columella morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009929	HP:0009929	Abnormal columella morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0009929	HP:0009929	Abnormal columella morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0009929	HP:0009929	Abnormal columella morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0009929	HP:0009929	Abnormal columella morphology	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0009929	HP:0009929	Abnormal columella morphology	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009929	HP:0009929	Abnormal columella morphology	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3		67
HP:0009929	HP:0009929	Abnormal columella morphology	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009929	HP:0009929	Abnormal columella morphology	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0009929	HP:0009929	Abnormal columella morphology	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0009929	HP:0009929	Abnormal columella morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009929	HP:0009929	Abnormal columella morphology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome		138
HP:0009929	HP:0009929	Abnormal columella morphology	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009929	HP:0009929	Abnormal columella morphology	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0009929	HP:0009929	Abnormal columella morphology	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome		1
HP:0009929	HP:0009929	Abnormal columella morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome		1
HP:0009929	HP:0009929	Abnormal columella morphology	0	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0009929	HP:0009929	Abnormal columella morphology	0	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0009929	HP:0009929	Abnormal columella morphology	0	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0009929	HP:0009929	Abnormal columella morphology	0	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis		39
HP:0009929	HP:0009929	Abnormal columella morphology	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0009929	HP:0009929	Abnormal columella morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type		7
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0009929	HP:0009929	Abnormal columella morphology	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0009929	HP:0012807	High insertion of columella	1	CL E G H
HP:0009929	HP:0002000	Short columella	1	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0009929	HP:0002000	Short columella	1	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0009929	HP:0009765	Low hanging columella	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0009929	HP:0009765	Low hanging columella	1	AIMP2 CL E G H	7965	20609	OMIM:618006	Leukodystrophy, hypomyelinating, 17	.	1
HP:0009929	HP:0010763	Low insertion of columella	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:0009929	HP:0002000	Short columella	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.	9
HP:0009929	HP:0010761	Broad columella	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0009929	HP:0002000	Short columella	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0009929	HP:0009765	Low hanging columella	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0009929	HP:0002000	Short columella	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0009929	HP:0009765	Low hanging columella	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0009929	HP:0010761	Broad columella	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.	2
HP:0009929	HP:0002000	Short columella	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0009929	HP:0009765	Low hanging columella	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0009929	HP:0009765	Low hanging columella	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0009929	HP:0009765	Low hanging columella	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0009929	HP:0009765	Low hanging columella	1	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0009929	HP:0002000	Short columella	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0009929	HP:0002000	Short columella	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1		27
HP:0009929	HP:0010761	Broad columella	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040282 - Frequent	7
HP:0009929	HP:0009765	Low hanging columella	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.	7
HP:0009929	HP:0009765	Low hanging columella	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0009929	HP:0002000	Short columella	1	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0009929	HP:0009765	Low hanging columella	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009929	HP:0002000	Short columella	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0009929	HP:0009765	Low hanging columella	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0009929	HP:0009765	Low hanging columella	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent	291
HP:0009929	HP:0002000	Short columella	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional	20
HP:0009929	HP:0009765	Low hanging columella	1	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0009929	HP:0010761	Broad columella	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0009929	HP:0010761	Broad columella	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies		4
HP:0009929	HP:0002000	Short columella	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0009929	HP:0002000	Short columella	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0009929	HP:0009765	Low hanging columella	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0009929	HP:0002000	Short columella	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009929	HP:0009765	Low hanging columella	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0009929	HP:0009765	Low hanging columella	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2		250
HP:0009929	HP:0009765	Low hanging columella	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent	250
HP:0009929	HP:0002000	Short columella	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome	.	12
HP:0009929	HP:0010761	Broad columella	1	EXOSC2 CL E G H	23404	17097	OMIM:617763	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	.
HP:0009929	HP:0010761	Broad columella	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0009929	HP:0010761	Broad columella	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040281 - Very frequent	68
HP:0009929	HP:0009765	Low hanging columella	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0009929	HP:0009765	Low hanging columella	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0009929	HP:0009765	Low hanging columella	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0009929	HP:0009765	Low hanging columella	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0009929	HP:0010761	Broad columella	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0009929	HP:0010761	Broad columella	1	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040282 - Frequent	33
HP:0009929	HP:0009765	Low hanging columella	1	HIVEP2 CL E G H	3097	4921	OMIM:616977	Mental retardation, autosomal dominant 43		13
HP:0009929	HP:0009765	Low hanging columella	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0009929	HP:0009765	Low hanging columella	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0009929	HP:0009765	Low hanging columella	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0009929	HP:0009765	Low hanging columella	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0009929	HP:0002000	Short columella	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome		13
HP:0009929	HP:0002000	Short columella	1	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0009929	HP:0009765	Low hanging columella	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0009929	HP:0009765	Low hanging columella	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65		2
HP:0009929	HP:0002000	Short columella	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	53
HP:0009929	HP:0002000	Short columella	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0009929	HP:0002000	Short columella	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040281 - Very frequent	660
HP:0009929	HP:0009765	Low hanging columella	1	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0009929	HP:0009765	Low hanging columella	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0009929	HP:0002000	Short columella	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0009929	HP:0010763	Low insertion of columella	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH		5
HP:0009929	HP:0002000	Short columella	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0009929	HP:0002000	Short columella	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0009929	HP:0009765	Low hanging columella	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0009929	HP:0009765	Low hanging columella	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0009929	HP:0002000	Short columella	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.	23
HP:0009929	HP:0002000	Short columella	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0009929	HP:0002000	Short columella	1	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0009929	HP:0009765	Low hanging columella	1	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0009929	HP:0009765	Low hanging columella	1	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0009929	HP:0010761	Broad columella	1	PIK3C2A CL E G H	5286	8971	ORPHA:557003	Oculocerebrodental syndrome	HP:0040283 - Occasional
HP:0009929	HP:0010761	Broad columella	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0009929	HP:0009765	Low hanging columella	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis		10
HP:0009929	HP:0009765	Low hanging columella	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009929	HP:0010761	Broad columella	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0009929	HP:0009765	Low hanging columella	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0009929	HP:0009765	Low hanging columella	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48	.	3
HP:0009929	HP:0009765	Low hanging columella	1	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:0009929	HP:0010761	Broad columella	1	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0009929	HP:0009765	Low hanging columella	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS		1200
HP:0009929	HP:0002000	Short columella	1	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0009929	HP:0002000	Short columella	1	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0009929	HP:0009765	Low hanging columella	1	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0009929	HP:0010763	Low insertion of columella	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0009929	HP:0009765	Low hanging columella	1	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27		14
HP:0009929	HP:0009765	Low hanging columella	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome		138
HP:0009929	HP:0009765	Low hanging columella	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0009929	HP:0009765	Low hanging columella	1	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome		5
HP:0009929	HP:0009765	Low hanging columella	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0009929	HP:0009765	Low hanging columella	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0009929	HP:0009765	Low hanging columella	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0009929	HP:0002000	Short columella	1	THUMPD1 CL E G H	55623	23807	OMIM:619989
HP:0009929	HP:0009765	Low hanging columella	1	TRIO CL E G H	7204	12303	OMIM:618825	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD63		8
HP:0009929	HP:0009765	Low hanging columella	1	TRIP12 CL E G H	9320	12306	OMIM:617752	Mental retardation, autosomal dominant 49		2
HP:0009929	HP:0010763	Low insertion of columella	1	TSPEAR CL E G H	54084	1268	OMIM:618180	Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	.	39
HP:0009929	HP:0002000	Short columella	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0009929	HP:0009765	Low hanging columella	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040281 - Very frequent	7
HP:0009929	HP:0009765	Low hanging columella	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome		362
HP:0009929	HP:0009765	Low hanging columella	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0009929	HP:0009765	Low hanging columella	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0009929	HP:0009765	Low hanging columella	1	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0009929	HP:0009765	Low hanging columella	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0009929	HP:0010761	Broad columella	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (84) :ACTB ACTG1 AFF3 AIMP2 ALG9 ALX3 ALX4 ARSL ASXL3 ATN1 ATP6V1E1 B3GLCT BICRA CAPN15 CDC42BPB CDH11 CENPF CHST14 CKAP2L CLCN3 CREBBP CTCF CTNNB1 CWC27 DNMT3A EDEM3 EP300 ERF EXOSC2 FLI1 GJA1 GJA5 GJA8 H3-3B H4C5 HDAC4 HIVEP2 HNRNPH2 HNRNPR ITCH KAT6A KCNH1 KCTD1 KDM3B KDM5B KDM6A KMT2D KMT5B LIFR LMBR1 MADD MAN2C1 MBD5 MGAT2 NAA10 NALCN NOG PCDHGC4 PIK3C2A POC1A PPP1R21 PQBP1 RAC1 RDH11 RYR1 SCNM1 SHH SMARCA2 SMG9 SOX11 SRCAP TAF6 TBCD THOC6 THUMPD1 TRIO TRIP12 TSPEAR TWIST1 UBE2A ZEB2 ZMIZ1 ZNF148 ZSWIM6

Diseases (99) :ORPHA:2995 OMIM:619297 OMIM:618006 ORPHA:79328 OMIM:136760 OMIM:613451 ORPHA:79345 ORPHA:352577 OMIM:615485 OMIM:618494 OMIM:617402 ORPHA:709 OMIM:619325 OMIM:619318 OMIM:619841 OMIM:211380 OMIM:243605 OMIM:601776 ORPHA:3255 OMIM:272440 OMIM:619512 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:363611 ORPHA:404473 ORPHA:166035 OMIM:250410 ORPHA:404443 OMIM:615879 OMIM:619493 OMIM:613684 ORPHA:353284 OMIM:617180 OMIM:617763 ORPHA:2308 ORPHA:2710 OMIM:164200 OMIM:612474 OMIM:619721 OMIM:619950 ORPHA:1001 OMIM:616977 OMIM:300986 OMIM:620073 OMIM:613385 OMIM:616268 OMIM:611816 OMIM:181270 OMIM:618846 OMIM:618109 ORPHA:2322 OMIM:300867 OMIM:617788 OMIM:601559 ORPHA:2378 OMIM:619005 OMIM:619775 OMIM:156200 OMIM:212066 ORPHA:79329 OMIM:300855 ORPHA:276432 OMIM:616266 OMIM:184460 OMIM:619880 ORPHA:557003 OMIM:618440 OMIM:614813 OMIM:619383 OMIM:309500 OMIM:617751 ORPHA:500159 ORPHA:436245 OMIM:619542 OMIM:620107 OMIM:142945 OMIM:601358 OMIM:619995 OMIM:615866 OMIM:136140 ORPHA:2044 OMIM:617126 OMIM:617193 OMIM:613680 ORPHA:363444 OMIM:619989 OMIM:618825 OMIM:617752 OMIM:618180 OMIM:617746 ORPHA:163956 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:617260 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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