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 testis morphology (HP:0000035)

Parent Node:
Cryptorchidism (HP:0000028)

..Starting node
..Unilateral cryptorchidism (HP:0012741)

Term ID:

12741

Name:

Unilateral cryptorchidism

Synonym:

Cryptorchidism, unilateral

Definition:

Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.

Comments:

Reference:

HP:0012741

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral cryptorchidism (HP:0008689)

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:0012741	HP:0012741	Unilateral cryptorchidism	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V		2
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	INSL3 CL E G H	3640	6086	OMIM:219050	Cryptorchidism, unilateral or bilateral	.	5
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome		2
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	NFIB CL E G H	4781	7785	OMIM:618286	Macrocephaly, acquired, with impaired intellectual development	HP:0040284 - Very rare	1
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional	40
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040281 - Very frequent	23
HP:0012741	HP:0012741	Unilateral cryptorchidism	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	HP:0040283 - Occasional	5

Genes (11) :ADARB1 DDX59 INSL3 KMT5B MYRF NFIB NFIX RNF135 SIN3A SRY XYLT2

Diseases (11) :OMIM:618862 OMIM:174300 OMIM:219050 OMIM:617788 OMIM:618280 OMIM:618286 ORPHA:447980 ORPHA:137634 OMIM:613406 ORPHA:1772 OMIM:605822

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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