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 helix morphology (HP:0011039)

Parent Node:
Abnormally folded helix (HP:0008544)

..Starting node
..Overfolded helix (HP:0000396)

Term ID:

396

Name:

Overfolded helix

Synonym:

Over-folded helices; Overfolded ears; Overfolded helices

Definition:

A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.

Comments:

Reference:

HP:0000396

Genes and Diseases:

Child Nodes:

........

Overfolding of the superior helices (HP:0004453)

Sister Nodes:

Underfolded helix (HP:0008577)

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:0000396	HP:0000396	Overfolded helix	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000396	HP:0000396	Overfolded helix	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000396	HP:0000396	Overfolded helix	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0000396	HP:0000396	Overfolded helix	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0000396	HP:0000396	Overfolded helix	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000396	HP:0000396	Overfolded helix	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0000396	HP:0000396	Overfolded helix	0	BCL11A CL E G H	53335	13221	OMIM:617101	Intellectual developmental disorder with persistence of fetal hemoglobin	.	11
HP:0000396	HP:0000396	Overfolded helix	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000396	HP:0000396	Overfolded helix	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0000396	HP:0000396	Overfolded helix	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000396	HP:0000396	Overfolded helix	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder		8
HP:0000396	HP:0000396	Overfolded helix	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000396	HP:0000396	Overfolded helix	0	CHUK CL E G H	1147	1974	OMIM:619339	BARTSOCAS-PAPAS SYNDROME 2; BPS2		3
HP:0000396	HP:0000396	Overfolded helix	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent	4
HP:0000396	HP:0000396	Overfolded helix	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000396	HP:0000396	Overfolded helix	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0000396	HP:0000396	Overfolded helix	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000396	HP:0000396	Overfolded helix	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0000396	HP:0000396	Overfolded helix	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	2
HP:0000396	HP:0000396	Overfolded helix	0	DACT1 CL E G H	51339	17748	OMIM:617466	Townes-Brocks syndrome 2	.	2
HP:0000396	HP:0000396	Overfolded helix	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000396	HP:0000396	Overfolded helix	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0000396	HP:0000396	Overfolded helix	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000396	HP:0000396	Overfolded helix	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040282 - Frequent	48
HP:0000396	HP:0000396	Overfolded helix	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0000396	HP:0000396	Overfolded helix	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia		175
HP:0000396	HP:0000396	Overfolded helix	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare	143
HP:0000396	HP:0000396	Overfolded helix	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies		198
HP:0000396	HP:0000396	Overfolded helix	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1		2
HP:0000396	HP:0000396	Overfolded helix	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040284 - Very rare	12
HP:0000396	HP:0000396	Overfolded helix	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42		12
HP:0000396	HP:0000396	Overfolded helix	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000396	HP:0000396	Overfolded helix	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000396	HP:0000396	Overfolded helix	0	HOXA2 CL E G H	3199	5103	OMIM:612290	MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE		21
HP:0000396	HP:0000396	Overfolded helix	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0000396	HP:0000396	Overfolded helix	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000396	HP:0000396	Overfolded helix	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000396	HP:0000396	Overfolded helix	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome	.	283
HP:0000396	HP:0000396	Overfolded helix	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0000396	HP:0000396	Overfolded helix	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040281 - Very frequent	8
HP:0000396	HP:0000396	Overfolded helix	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0000396	HP:0000396	Overfolded helix	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000396	HP:0000396	Overfolded helix	0	NARS1 CL E G H	4677	7643	OMIM:619092	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0000396	HP:0000396	Overfolded helix	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0000396	HP:0000396	Overfolded helix	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000396	HP:0000396	Overfolded helix	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000396	HP:0000396	Overfolded helix	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000396	HP:0000396	Overfolded helix	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000396	HP:0000396	Overfolded helix	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0000396	HP:0000396	Overfolded helix	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2		82
HP:0000396	HP:0000396	Overfolded helix	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0000396	HP:0000396	Overfolded helix	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy	.
HP:0000396	HP:0000396	Overfolded helix	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040283 - Occasional	11
HP:0000396	HP:0000396	Overfolded helix	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0000396	HP:0000396	Overfolded helix	0	RPS23 CL E G H	6228	10410	OMIM:617412	BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD		2
HP:0000396	HP:0000396	Overfolded helix	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000396	HP:0000396	Overfolded helix	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040282 - Frequent	124
HP:0000396	HP:0000396	Overfolded helix	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1		124
HP:0000396	HP:0000396	Overfolded helix	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome		11
HP:0000396	HP:0000396	Overfolded helix	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000396	HP:0000396	Overfolded helix	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000396	HP:0000396	Overfolded helix	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000396	HP:0000396	Overfolded helix	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000396	HP:0000396	Overfolded helix	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000396	HP:0000396	Overfolded helix	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000396	HP:0000396	Overfolded helix	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0000396	HP:0000396	Overfolded helix	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B		2
HP:0000396	HP:0000396	Overfolded helix	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000396	HP:0000396	Overfolded helix	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0000396	HP:0000396	Overfolded helix	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0000396	HP:0000396	Overfolded helix	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000396	HP:0000396	Overfolded helix	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000396	HP:0000396	Overfolded helix	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0000396	HP:0000396	Overfolded helix	0	ZMYND11 CL E G H	10771	16966	OMIM:616083	Mental retardation, autosomal dominant 30		24
HP:0000396	HP:0000396	Overfolded helix	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0000396	HP:0004453	Overfolding of the superior helices	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000396	HP:0004453	Overfolding of the superior helices	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent	175
HP:0000396	HP:0004453	Overfolding of the superior helices	1	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000396	HP:0004453	Overfolding of the superior helices	1	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000396	HP:0004453	Overfolding of the superior helices	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124

Genes (69) :ACTB AGO2 AMER1 AMMECR1 ARVCF ASXL2 BCL11A BCOR BHLHA9 BICRA CDK13 CHD7 CHUK CLIC2 COMT CPT2 CREBBP CSPP1 DACT1 DDX6 EBF3 EFTUD2 FANCB FGFR2 FOXP2 FREM1 GNAI3 GNB1 GP1BB HIRA HOXA2 HSPG2 JMJD1C KANSL1 KIAA0586 LONP1 MAPRE2 NAA10 NARS1 NFIX PIGA PIGB PIGL PIGN PLCB4 PPP1CB PPP2R3C PYCR2 RECQL4 RPS23 RREB1 SALL1 SCARF2 SEC24C SEMA3E SLC26A2 SMC1A TASP1 TBX1 TBX2 TCF3 TFAP2A TGFB3 TRIO TWIST1 UFD1 VPS51 ZMYND11 ZNF462

Diseases (63) :OMIM:243310 OMIM:619149 OMIM:300373 OMIM:300990 ORPHA:567 OMIM:617190 OMIM:617101 OMIM:309800 ORPHA:3329 OMIM:619325 OMIM:617360 ORPHA:138 OMIM:619339 ORPHA:324410 OMIM:608836 OMIM:618332 ORPHA:397715 ORPHA:857 OMIM:617466 OMIM:618653 OMIM:617330 OMIM:610536 ORPHA:79113 OMIM:300514 ORPHA:313855 ORPHA:209908 OMIM:608980 OMIM:602483 ORPHA:488613 OMIM:616973 OMIM:612290 ORPHA:800 OMIM:255800 OMIM:610443 ORPHA:1458 OMIM:616734 OMIM:619092 OMIM:602535 OMIM:300868 OMIM:618580 OMIM:280000 ORPHA:280633 OMIM:614080 OMIM:614669 OMIM:617506 OMIM:618419 ORPHA:481152 OMIM:268400 OMIM:617412 OMIM:107480 OMIM:600920 ORPHA:628 OMIM:301044 OMIM:618950 OMIM:618223 OMIM:619824 OMIM:113620 OMIM:615582 OMIM:617061 OMIM:617746 OMIM:618606 OMIM:616083 OMIM:618619

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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