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 reproductive system morphology (HP:0012243)

Parent Node:
Abnormal external genitalia (HP:0000811)

..Starting node
..Overgrowth of external genitalia (HP:0003247)

Term ID:

3247

Name:

Overgrowth of external genitalia

Synonym:

Overgrowth of external genitalia

Definition:

Comments:

Reference:

HP:0003247

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal genital pigmentation (HP:0012293)

Abnormality of female external genitalia (HP:0000055)

Abnormality of male external genitalia (HP:0000032)

Absent external genitalia (HP:0000042)

Ambiguous genitalia (HP:0000062)

External genital hypoplasia (HP:0003241)

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:0003247	HP:0003247	Overgrowth of external genitalia	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	85
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	105
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	11
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	48
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent	229
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0003247	HP:0003247	Overgrowth of external genitalia	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional	42

Genes (12) :AGPAT2 BSCL2 CAV1 CAVIN1 CDKN1C FOS H19-ICR IGF2 INSR KCNQ1 KCNQ1OT1 PPARG

Diseases (3) :ORPHA:528 OMIM:130650 ORPHA:508

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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