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 morphology of female internal genitalia (HP:0000008)

Parent Node:
Abnormality of the uterus (HP:0000130)

..Starting node
..Abnormal uterine cervix morphology (HP:0012888)

Term ID:

12888

Name:

Abnormal uterine cervix morphology

Synonym:

Abnormality of the uterine cervix

Definition:

An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix.

Comments:

Reference:

HP:0012888

Genes and Diseases:

Child Nodes:

........

Cervical endometriosis (HP:0012889)

........

Cervical agenesis (HP:0030008)

........

Cervical insufficiency (HP:0030009)

........

Cervix cancer (HP:0030079)

........

Cervical ectropion (HP:0030158)

........

Cervical polyp (HP:0030159)

........

Cervicitis (HP:0030160)

Sister Nodes:

Abnormal uterus morphology (HP:0031105)

Aplasia/hypoplasia of the uterus (HP:0008684)

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:0012888	HP:0012888	Abnormal uterine cervix morphology	0	AR CL E G H	367	644	ORPHA:99429	Complete androgen insensitivity syndrome	HP:0040281 - Very frequent	125
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0012888	HP:0012888	Abnormal uterine cervix morphology	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012888	HP:0032131	Cervical dysplasia	1	CL E G H
HP:0012888	HP:0030159	Cervical polyp	1	CL E G H
HP:0012888	HP:0030158	Cervical ectropion	1	CL E G H
HP:0012888	HP:0030008	Cervical agenesis	1	CL E G H
HP:0012888	HP:0012889	Cervical endometriosis	1	CL E G H
HP:0012888	HP:0032241	Cervical neoplasm	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4		102
HP:0012888	HP:0030009	Cervical insufficiency	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0012888	HP:0030009	Cervical insufficiency	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.	749
HP:0012888	HP:0030009	Cervical insufficiency	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0012888	HP:0030009	Cervical insufficiency	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0012888	HP:0032241	Cervical neoplasm	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0012888	HP:0030160	Cervicitis	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0012888	HP:0032241	Cervical neoplasm	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0012888	HP:0032241	Cervical neoplasm	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome		740
HP:0012888	HP:0032242	Cervical intraepithelial neoplasia	2	CL E G H
HP:0012888	HP:0030079	Cervix cancer	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional	102
HP:0012888	HP:0030079	Cervix cancer	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional	9
HP:0012888	HP:0030079	Cervix cancer	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0012888	HP:0030079	Cervix cancer	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional	740

Genes (10) :AR CDKN1B COL1A1 COL3A1 COL5A1 COL5A2 CXCR4 PLG SRY STK11

Diseases (8) :ORPHA:99429 ORPHA:276152 ORPHA:287 OMIM:130050 ORPHA:51636 ORPHA:722 ORPHA:1772 ORPHA:2869

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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