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 digestive system (HP:0025031)

Parent Node:
Abnormality of the abdominal wall (HP:0004298)

..Starting node
..Exstrophy (HP:0100548)

Term ID:

100548

Name:

Exstrophy

Synonym:

Definition:

Eversion of a hollow organ and exposure, inside out, and protruded through the abdominal wall.

Comments:

Reference:

HP:0100548

Genes and Diseases:

Child Nodes:

........

Bladder exstrophy (HP:0002836)

........

Cloacal exstrophy (HP:0010475)

Sister Nodes:

Abdominal wall defect (HP:0010866)

Abnormal morphology of the abdominal musculature (HP:0010991)

Abnormal umbilicus morphology (HP:0001551)

Prune belly (HP:0004392)

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:0100548	HP:0100548	Exstrophy	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0100548	HP:0100548	Exstrophy	0	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy		2
HP:0100548	HP:0100548	Exstrophy	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0100548	HP:0100548	Exstrophy	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100548	HP:0100548	Exstrophy	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria		641
HP:0100548	HP:0100548	Exstrophy	0	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy		140
HP:0100548	HP:0100548	Exstrophy	0	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency		44
HP:0100548	HP:0010475	Cloacal exstrophy	1	CL E G H
HP:0100548	HP:0002836	Bladder exstrophy	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0100548	HP:0002836	Bladder exstrophy	1	ISL1 CL E G H	3670	6132	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	2
HP:0100548	HP:0002836	Bladder exstrophy	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0100548	HP:0002836	Bladder exstrophy	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0100548	HP:0002836	Bladder exstrophy	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040284 - Very rare	641
HP:0100548	HP:0002836	Bladder exstrophy	1	TP63 CL E G H	8626	15979	ORPHA:93930	Bladder exstrophy	HP:0040281 - Very frequent	140
HP:0100548	HP:0002836	Bladder exstrophy	1	UPB1 CL E G H	51733	16297	OMIM:613161	Beta-Ureidopropionase deficiency	.	44

Genes (7) :CDH11 ISL1 KRAS MED12 PAH TP63 UPB1

Diseases (6) :ORPHA:1299 ORPHA:93930 OMIM:600268 OMIM:301068 ORPHA:2209 OMIM:613161

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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