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:
Abnormal helix morphology (HP:0011039)

Grandparent Node:
Abnormality of cartilage of external ear (HP:3000022)

Parent Node:
Abnormality of the crus of the helix (HP:0009895)

..Starting node
..Prominent crus of helix (HP:0009899)

Term ID:

9899

Name:

Prominent crus of helix

Synonym:

Abnormal prominence of the crus of the ear; Helix, crus, prominent; Hyperplastic helix crus; Hypertrophic helix crus

Definition:

The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix.

Comments:

Reference:

HP:0009899

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent crus of helix (HP:0011255)

Crus of helix connected to antihelix (HP:0011256)

Expanded terminal portion of crus of helix (HP:0011259)

Horizontal crus of helix (HP:0009897)

Serpiginous crus of helix (HP:0011257)

Tragal bridge of crus of helix (HP:0011258)

Underdeveloped crus of the helix (HP:0009898)

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:0009899	HP:0009899	Prominent crus of helix	0	FGFR2 CL E G H	2263	3689	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	175
HP:0009899	HP:0009899	Prominent crus of helix	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0009899	HP:0009899	Prominent crus of helix	0	FGFR3 CL E G H	2261	3690	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	145
HP:0009899	HP:0009899	Prominent crus of helix	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0009899	HP:0009899	Prominent crus of helix	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST		118
HP:0009899	HP:0009899	Prominent crus of helix	0	STEEP1 CL E G H	63932	26239	OMIM:301013	MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0009899	HP:0009899	Prominent crus of helix	0	TWIST1 CL E G H	7291	12428	ORPHA:794	Saethre-Chotzen syndrome	HP:0040282 - Frequent	18
HP:0009899	HP:0009899	Prominent crus of helix	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18

Genes (6) :FGFR2 FGFR3 HS2ST1 NSD2 STEEP1 TWIST1

Diseases (5) :ORPHA:794 OMIM:101400 OMIM:619194 OMIM:619695 OMIM:301013

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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