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 reproductive system morphology (HP:0012243)

Parent Node:
Abnormal external genitalia (HP:0000811)

..Starting node
..Absent external genitalia (HP:0000042)

Term ID:

Name:

Absent external genitalia

Synonym:

Absent external genitalia

Definition:

Lack of external genitalia in a male or female individual.

Comments:

Reference:

HP:0000042

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)

Ambiguous genitalia (HP:0000062)

External genital hypoplasia (HP:0003241)

Overgrowth of external genitalia (HP:0003247)

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:0000042	HP:0000042	Absent external genitalia	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040284 - Very rare	2
HP:0000042	HP:0000042	Absent external genitalia	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000042	HP:0000042	Absent external genitalia	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.	12

Genes (3) :CDH11 RIPK4 WNT3

Diseases (3) :ORPHA:1299 OMIM:263650 OMIM:273395

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