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 testis size (HP:0045058)

Parent Node:
Aplasia/Hypoplasia of the testes (HP:0010468)

..Starting node
..Absent testis (HP:0010469)

Term ID:

10469

Name:

Absent testis

Synonym:

Absence of palpable testicules; Absent testes; Aplasia of the testes

Definition:

Testis not palpable in the scrotum or inguinal canal.

Comments:

Reference:

HP:0010469

Genes and Diseases:

Child Nodes:

Sister Nodes:

Decreased testicular size (HP:0008734)

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:0010469	HP:0010469	Absent testis	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0010469	HP:0010469	Absent testis	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0010469	HP:0010469	Absent testis	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0010469	HP:0010469	Absent testis	0	DHX37 CL E G H	57647	17210	ORPHA:983	Testicular regression syndrome	HP:0040281 - Very frequent	2
HP:0010469	HP:0010469	Absent testis	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0010469	HP:0010469	Absent testis	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0010469	HP:0010469	Absent testis	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0010469	HP:0010469	Absent testis	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0010469	HP:0010469	Absent testis	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0010469	HP:0010469	Absent testis	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010469	HP:0010469	Absent testis	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0010469	HP:0010469	Absent testis	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0010469	HP:0010469	Absent testis	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0010469	HP:0010469	Absent testis	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0010469	HP:0010469	Absent testis	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0010469	HP:0010469	Absent testis	0	GDF6 CL E G H	392255	4221	OMIM:613094	MICROPHTHALMIA, ISOLATED 4; MCOP4		64
HP:0010469	HP:0010469	Absent testis	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0010469	HP:0010469	Absent testis	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0010469	HP:0010469	Absent testis	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0010469	HP:0010469	Absent testis	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0010469	HP:0010469	Absent testis	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0010469	HP:0010469	Absent testis	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0010469	HP:0010469	Absent testis	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0010469	HP:0010469	Absent testis	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0010469	HP:0010469	Absent testis	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125

Genes (25) :BRCA1 BRCA2 BRIP1 DHX37 ERCC4 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM GDF6 MAD2L2 PALB2 RAD51 RAD51C RFWD3 SLX4 TCTN3 UBE2T XRCC2

Diseases (4) :ORPHA:84 ORPHA:983 OMIM:613094 ORPHA:2753

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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