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
..Underfolded helix (HP:0008577)

Term ID:

8577

Name:

Underfolded helix

Synonym:

Poorly folded helices

Definition:

Underdevelopment of the helix that either affects the entire helix, or is localized.

Comments:

Reference:

HP:0008577

Genes and Diseases:

Child Nodes:

........

Underfolded superior helices (HP:0008583)

Sister Nodes:

Overfolded helix (HP:0000396)

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:0008577	HP:0008577	Underfolded helix	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0008577	HP:0008577	Underfolded helix	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0008577	HP:0008577	Underfolded helix	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS		445
HP:0008577	HP:0008577	Underfolded helix	0	SCNM1 CL E G H	79005	23136	OMIM:620107
HP:0008577	HP:0008577	Underfolded helix	0	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0008577	HP:0008577	Underfolded helix	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked		122
HP:0008577	HP:0008577	Underfolded helix	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0008577	HP:0008583	Underfolded superior helices	1	SLC16A2 CL E G H	6567	10923	OMIM:300523	Allan-Herndon-Dudley syndrome		57
HP:0008577	HP:0008583	Underfolded superior helices	1	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122

Genes (7) :COL2A1 FN1 RECQL4 SCNM1 SLC16A2 SLC6A8 TMEM94

Diseases (6) :ORPHA:93315 OMIM:268400 OMIM:620107 OMIM:300523 OMIM:300352 OMIM:618316

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