Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 testis morphology (HP:0000035)

Parent Node:
Abnormality of the testis size (HP:0045058)

..Starting node
..Macroorchidism (HP:0000053)

Term ID:

Name:

Macroorchidism

Synonym:

Large testicles; Large testis

Definition:

The presence of abnormally large testes.

Comments:

Reference:

HP:0000053

Genes and Diseases:

Child Nodes:

........

Macroorchidism, postpubertal (HP:0002050)

........

Congenital macroorchidism (HP:0008640)

Sister Nodes:

Aplasia/Hypoplasia of the testes (HP:0010468)

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:0000053	HP:0000053	Macroorchidism	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent	76
HP:0000053	HP:0000053	Macroorchidism	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0000053	HP:0000053	Macroorchidism	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000053	HP:0000053	Macroorchidism	0	ARX CL E G H	170302	18060	ORPHA:94083	Partington syndrome	HP:0040282 - Frequent	166
HP:0000053	HP:0000053	Macroorchidism	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32		4
HP:0000053	HP:0000053	Macroorchidism	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional	4
HP:0000053	HP:0000053	Macroorchidism	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency		60
HP:0000053	HP:0000053	Macroorchidism	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0000053	HP:0000053	Macroorchidism	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040281 - Very frequent	30
HP:0000053	HP:0000053	Macroorchidism	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0000053	HP:0000053	Macroorchidism	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000053	HP:0000053	Macroorchidism	0	IL1RAPL1 CL E G H	11141	5996	OMIM:300143	Mental retardation, X-linked 21		42
HP:0000053	HP:0000053	Macroorchidism	0	LHCGR CL E G H	3973	6585	ORPHA:3000	Familial male-limited precocious puberty	HP:0040283 - Occasional	67
HP:0000053	HP:0000053	Macroorchidism	0	MECP2 CL E G H	4204	6990	OMIM:300055	Mental retardation, X-linked, syndromic 13	.	950
HP:0000053	HP:0000053	Macroorchidism	0	MECP2 CL E G H	4204	6990	ORPHA:3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	HP:0040281 - Very frequent	950
HP:0000053	HP:0000053	Macroorchidism	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0000053	HP:0000053	Macroorchidism	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	228
HP:0000053	HP:0000053	Macroorchidism	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0000053	HP:0000053	Macroorchidism	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex		13
HP:0000053	HP:0000053	Macroorchidism	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex		134
HP:0000053	HP:0000053	Macroorchidism	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000053	HP:0000053	Macroorchidism	0	RBMX CL E G H	27316	9910	OMIM:300238	MENTAL RETARDATION, X-LINKED, SYNDROMIC 11; MRXS11		2
HP:0000053	HP:0000053	Macroorchidism	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent	9
HP:0000053	HP:0000053	Macroorchidism	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	33
HP:0000053	HP:0000053	Macroorchidism	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent	10
HP:0000053	HP:0002050	Macroorchidism, postpubertal	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent	60
HP:0000053	HP:0008640	Congenital macroorchidism	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0000053	HP:0002050	Macroorchidism, postpubertal	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30

Genes (20) :AGA AKT1 ARX CLIC2 CYP19A1 FMR1 GNAS H4C5 IL1RAPL1 LHCGR MECP2 MED12 NF1 PDE11A PRKAR1A PTEN RBMX TSHB UPF3B ZDHHC9

Diseases (21) :ORPHA:93 OMIM:208400 ORPHA:744 ORPHA:94083 OMIM:300886 ORPHA:324410 ORPHA:91 OMIM:300624 ORPHA:908 ORPHA:562 OMIM:619950 OMIM:300143 ORPHA:3000 OMIM:300055 ORPHA:3077 OMIM:309520 ORPHA:776 ORPHA:139474 ORPHA:1359 OMIM:300238 ORPHA:90674

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen