Human Phenotype Ontology 
Grandparent Node:
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Abnormal testis morphology (HP:0000035)help
Parent Node:
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Abnormality of the testis size (HP:0045058)help
..Starting node
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Aplasia/Hypoplasia of the testes (HP:0010468)help
Term ID: 10468
Name: Aplasia/Hypoplasia of the testes
Synonym: Absent/small testes; Absent/underdeveloped testes
Definition: Absence or underdevelopment of the testes.
Comments:
Reference: HP:0010468
Genes and Diseases:
 
       Child Nodes:
........expandDecreased testicular size (HP:0008734) help
........expandAbsent testis (HP:0010469) help

 Sister Nodes: 
..expandMacroorchidism (HP:0000053) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2166
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1317
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0BRCA1 CL E G H6721100ORPHA:84Fanconi anemia5769
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0BRCA2 CL E G H6751101ORPHA:84Fanconi anemia7642
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemia1086
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0C14ORF39 CL E G H31776119849ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CCDC34 CL E G H9105725079ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CDKN1C CL E G H10281786ORPHA:436144Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome114
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CFTR CL E G H10801884ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1371
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndrome4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CUL7 CL E G H982021024OMIM:2737503-M syndrome 1127
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DAZ1 CL E G H16172682ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DAZ2 CL E G H5705515964ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DAZ3 CL E G H5705415965ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DAZ4 CL E G H5713515966ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndrome87
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DDX3Y CL E G H86532699ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DHX37 CL E G H5764717210ORPHA:983Testicular regression syndromeHP:0040281 - Very frequent2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked65
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V25
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ERCC4 CL E G H20723436ORPHA:84Fanconi anemia158
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCA CL E G H21753582ORPHA:84Fanconi anemia340
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCB CL E G H21873583ORPHA:84Fanconi anemia58
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCC CL E G H21763584ORPHA:84Fanconi anemia410
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCD2 CL E G H21773585ORPHA:84Fanconi anemia147
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCE CL E G H21783586ORPHA:84Fanconi anemia73
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCF CL E G H21883587ORPHA:84Fanconi anemia87
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCG CL E G H21893588ORPHA:84Fanconi anemia73
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCI CL E G H5521525568ORPHA:84Fanconi anemia157
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCL CL E G H5512020748ORPHA:84Fanconi anemia53
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCM CL E G H5769723168ORPHA:84Fanconi anemia107
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCM CL E G H5769723168ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation107
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28107
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndrome1361
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndrome30
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndrome3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0KLHL10 CL E G H31771918829ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction47
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0LHCGR CL E G H39736585OMIM:176410Precocious puberty, male67
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemia1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome11
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndrome22
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MCM8 CL E G H8451516147OMIM:612885Premature ovarian failure 104
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0MEIOB CL E G H25452828569ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NANOS1 CL E G H34071923044ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NANOS1 CL E G H34071923044ORPHA:399808Male infertility with teratozoospermia due to single gene mutation4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex development48
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex development38
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NR5A1 CL E G H25167983ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation38
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia6
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PALB2 CL E G H7972826144ORPHA:84Fanconi anemia1349
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndrome29
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius type23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency37
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PNLDC1 CL E G H15419721185ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PNLDC1 CL E G H15419721185OMIM:619528SPERMATOGENIC FAILURE 57; SPGF57
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan type28
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RAD51 CL E G H58889817ORPHA:84Fanconi anemia9
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RAD51C CL E G H58899820ORPHA:84Fanconi anemia391
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RBMY1A1 CL E G H59409912ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemia
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RPL10L CL E G H14080117976OMIM:619689SPERMATOGENIC FAILURE 63; SPGF632
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangement34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndrome40
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type55
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SLX4 CL E G H8446423845ORPHA:84Fanconi anemia274
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOHLH1 CL E G H40238127845ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation3
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex development24
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex development109
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex development23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SYCE1 CL E G H9342628852ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation4
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0SYCP3 CL E G H5051118130ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation12
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TAF4B CL E G H687511538ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TDRD9 CL E G H12240220122ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TEX11 CL E G H5615911733ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation5
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TEX14 CL E G H5615511737ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TEX15 CL E G H5615411738ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TEX15 CL E G H5615411738OMIM:617960Spermatogenic failure 251
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndrome5
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TSPY1 CL E G H725812381ORPHA:1646Partial chromosome Y deletion
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0TYMS CL E G H729812441OMIM:6200401
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0UBE2T CL E G H2908925009ORPHA:84Fanconi anemia2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0USP9Y CL E G H828712633ORPHA:1646Partial chromosome Y deletion2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia10
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040282 - Frequent310
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0XRCC2 CL E G H751612829ORPHA:84Fanconi anemia125
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0XRCC2 CL E G H751612829ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation125
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0XRCC2 CL E G H751612829OMIM:619145SPERMATOGENIC FAILURE 50; SPGF50125
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ZMYND15 CL E G H8422520997ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutation1
HP:0010468HP:0010468Aplasia/Hypoplasia of the testes0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0010468HP:0008734Decreased testicular size1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0010468HP:0008734Decreased testicular size1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0010468HP:0008734Decreased testicular size1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0010468HP:0008734Decreased testicular size1ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 1.29
HP:0010468HP:0008734Decreased testicular size1ARX CL E G H17030218060OMIM:300215Lissencephaly, X-linked, 2.166
HP:0010468HP:0008734Decreased testicular size1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0010468HP:0008734Decreased testicular size1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0010468HP:0008734Decreased testicular size1B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13HP:0040283 - Occasional17
HP:0010468HP:0008734Decreased testicular size1BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1.114
HP:0010468HP:0010469Absent testis1BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0010468HP:0010469Absent testis1BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0010468HP:0008734Decreased testicular size1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040283 - Occasional8
HP:0010468HP:0010469Absent testis1BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0010468HP:0008734Decreased testicular size1C14ORF39 CL E G H31776119849ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0010468HP:0008734Decreased testicular size1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 1.4
HP:0010468HP:0008734Decreased testicular size1CCDC34 CL E G H9105725079ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1CDKN1C CL E G H10281786ORPHA:436144Intrauterine growth restriction-short stature-early adult-onset diabetes syndromeHP:0040281 - Very frequent114
HP:0010468HP:0008734Decreased testicular size1CFTR CL E G H10801884ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent1371
HP:0010468HP:0008734Decreased testicular size1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0010468HP:0008734Decreased testicular size1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0010468HP:0008734Decreased testicular size1CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040282 - Frequent4
HP:0010468HP:0008734Decreased testicular size1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathyHP:0040283 - Occasional17
HP:0010468HP:0008734Decreased testicular size1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0010468HP:0008734Decreased testicular size1CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040282 - Frequent38
HP:0010468HP:0008734Decreased testicular size1CUL7 CL E G H982021024OMIM:2737503-M syndrome 1.127
HP:0010468HP:0008734Decreased testicular size1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040282 - Frequent2
HP:0010468HP:0008734Decreased testicular size1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0010468HP:0008734Decreased testicular size1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0010468HP:0008734Decreased testicular size1CYP11B1 CL E G H15842591OMIM:202010Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency112
HP:0010468HP:0008734Decreased testicular size1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040282 - Frequent53
HP:0010468HP:0008734Decreased testicular size1DAZ1 CL E G H16172682ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1DAZ2 CL E G H5705515964ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1DAZ3 CL E G H5705415965ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1DAZ4 CL E G H5713515966ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0010468HP:0008734Decreased testicular size1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0010468HP:0008734Decreased testicular size1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0010468HP:0008734Decreased testicular size1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0010468HP:0008734Decreased testicular size1DDX3Y CL E G H86532699ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0010468HP:0010469Absent testis1DHX37 CL E G H5764717210ORPHA:983Testicular regression syndromeHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1DHX37 CL E G H5764717210ORPHA:983Testicular regression syndromeHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0010468HP:0008734Decreased testicular size1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0010468HP:0008734Decreased testicular size1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0010468HP:0008734Decreased testicular size1DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0010468HP:0008734Decreased testicular size1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0010468HP:0008734Decreased testicular size1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0010468HP:0008734Decreased testicular size1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0010468HP:0010469Absent testis1ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0010468HP:0008734Decreased testicular size1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0010468HP:0008734Decreased testicular size1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0010468HP:0008734Decreased testicular size1FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0010468HP:0010469Absent testis1FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0010468HP:0010469Absent testis1FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0010468HP:0010469Absent testis1FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0010468HP:0010469Absent testis1FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0010468HP:0010469Absent testis1FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0010468HP:0010469Absent testis1FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0010468HP:0010469Absent testis1FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0010468HP:0010469Absent testis1FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0010468HP:0010469Absent testis1FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0010468HP:0010469Absent testis1FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0010468HP:0008734Decreased testicular size1FANCM CL E G H5769723168ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent107
HP:0010468HP:0008734Decreased testicular size1FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28.107
HP:0010468HP:0008734Decreased testicular size1FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0010468HP:0008734Decreased testicular size1FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0010468HP:0008734Decreased testicular size1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0010468HP:0008734Decreased testicular size1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0010468HP:0008734Decreased testicular size1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0010468HP:0008734Decreased testicular size1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0010468HP:0008734Decreased testicular size1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0010468HP:0008734Decreased testicular size1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0010468HP:0008734Decreased testicular size1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0010468HP:0008734Decreased testicular size1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0010468HP:0008734Decreased testicular size1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0010468HP:0008734Decreased testicular size1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0010468HP:0008734Decreased testicular size1FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia.23
HP:0010468HP:0008734Decreased testicular size1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040281 - Very frequent23
HP:0010468HP:0008734Decreased testicular size1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0010468HP:0008734Decreased testicular size1GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0010468HP:0010469Absent testis1GDF6 CL E G H3922554221OMIM:613094MICROPHTHALMIA, ISOLATED 4; MCOP464
HP:0010468HP:0008734Decreased testicular size1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0010468HP:0008734Decreased testicular size1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0010468HP:0008734Decreased testicular size1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0010468HP:0008734Decreased testicular size1GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia.15
HP:0010468HP:0008734Decreased testicular size1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0010468HP:0008734Decreased testicular size1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0010468HP:0008734Decreased testicular size1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0010468HP:0008734Decreased testicular size1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0010468HP:0008734Decreased testicular size1HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0010468HP:0008734Decreased testicular size1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0010468HP:0008734Decreased testicular size1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0010468HP:0008734Decreased testicular size1HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia.8
HP:0010468HP:0008734Decreased testicular size1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0010468HP:0008734Decreased testicular size1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0010468HP:0008734Decreased testicular size1HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0010468HP:0008734Decreased testicular size1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0010468HP:0008734Decreased testicular size1HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0010468HP:0008734Decreased testicular size1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0010468HP:0008734Decreased testicular size1KCNJ6 CL E G H37636267ORPHA:435628Keppen-Lubinsky syndromeHP:0040282 - Frequent3
HP:0010468HP:0008734Decreased testicular size1KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0010468HP:0008734Decreased testicular size1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0010468HP:0008734Decreased testicular size1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0010468HP:0008734Decreased testicular size1KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0010468HP:0008734Decreased testicular size1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0010468HP:0008734Decreased testicular size1KLHL10 CL E G H31771918829ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent3
HP:0010468HP:0008734Decreased testicular size1LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0010468HP:0008734Decreased testicular size1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040281 - Very frequent47
HP:0010468HP:0008734Decreased testicular size1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040281 - Very frequent46
HP:0010468HP:0008734Decreased testicular size1LHCGR CL E G H39736585OMIM:176410Precocious puberty, male.67
HP:0010468HP:0008734Decreased testicular size1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0010468HP:0010469Absent testis1MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0010468HP:0008734Decreased testicular size1MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0010468HP:0008734Decreased testicular size1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0010468HP:0008734Decreased testicular size1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0010468HP:0008734Decreased testicular size1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0010468HP:0008734Decreased testicular size1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0010468HP:0008734Decreased testicular size1MAP3K7 CL E G H68856859OMIM:157800Cardiospondylocarpofacial syndrome.11
HP:0010468HP:0008734Decreased testicular size1MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040282 - Frequent22
HP:0010468HP:0008734Decreased testicular size1MCM8 CL E G H8451516147OMIM:612885Premature ovarian failure 10.4
HP:0010468HP:0008734Decreased testicular size1MEIOB CL E G H25452828569ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0010468HP:0008734Decreased testicular size1NANOS1 CL E G H34071923044ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1NANOS1 CL E G H34071923044ORPHA:399808Male infertility with teratozoospermia due to single gene mutationHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0010468HP:0008734Decreased testicular size1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0010468HP:0008734Decreased testicular size1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0010468HP:0008734Decreased testicular size1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent48
HP:0010468HP:0008734Decreased testicular size1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0010468HP:0008734Decreased testicular size1NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent38
HP:0010468HP:0008734Decreased testicular size1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0010468HP:0008734Decreased testicular size1NR5A1 CL E G H25167983ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent38
HP:0010468HP:0008734Decreased testicular size1NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0010468HP:0008734Decreased testicular size1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0010468HP:0008734Decreased testicular size1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0010468HP:0008734Decreased testicular size1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0010468HP:0008734Decreased testicular size1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0010468HP:0008734Decreased testicular size1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0010468HP:0008734Decreased testicular size1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0010468HP:0010469Absent testis1PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0010468HP:0008734Decreased testicular size1PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0010468HP:0008734Decreased testicular size1PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040282 - Frequent23
HP:0010468HP:0008734Decreased testicular size1PHGDH CL E G H262278923OMIM:601815Phosphoglycerate dehydrogenase deficiency.37
HP:0010468HP:0008734Decreased testicular size1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0010468HP:0008734Decreased testicular size1PNLDC1 CL E G H15419721185ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1PNLDC1 CL E G H15419721185OMIM:619528SPERMATOGENIC FAILURE 57; SPGF57
HP:0010468HP:0008734Decreased testicular size1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0010468HP:0008734Decreased testicular size1PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome28
HP:0010468HP:0008734Decreased testicular size1PQBP1 CL E G H100849330ORPHA:93950X-linked intellectual disability, Sutherland-Haan typeHP:0040282 - Frequent28
HP:0010468HP:0008734Decreased testicular size1PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0010468HP:0008734Decreased testicular size1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0010468HP:0008734Decreased testicular size1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0010468HP:0008734Decreased testicular size1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0010468HP:0008734Decreased testicular size1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0010468HP:0008734Decreased testicular size1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0010468HP:0008734Decreased testicular size1PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0010468HP:0008734Decreased testicular size1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0010468HP:0010469Absent testis1RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0010468HP:0010469Absent testis1RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0010468HP:0008734Decreased testicular size1RBMY1A1 CL E G H59409912ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0010469Absent testis1RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0010468HP:0008734Decreased testicular size1RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0010468HP:0008734Decreased testicular size1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0010468HP:0008734Decreased testicular size1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0010468HP:0008734Decreased testicular size1RPL10L CL E G H14080117976OMIM:619689SPERMATOGENIC FAILURE 63; SPGF632
HP:0010468HP:0008734Decreased testicular size1RSPO1 CL E G H28465421679OMIM:610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal.3
HP:0010468HP:0008734Decreased testicular size1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0010468HP:0008734Decreased testicular size1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0010468HP:0008734Decreased testicular size1SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0010468HP:0008734Decreased testicular size1SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0010468HP:0008734Decreased testicular size1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0010468HP:0008734Decreased testicular size1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0010468HP:0008734Decreased testicular size1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0010468HP:0008734Decreased testicular size1SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040281 - Very frequent68
HP:0010468HP:0008734Decreased testicular size1SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0010468HP:0010469Absent testis1SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0010468HP:0008734Decreased testicular size1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0010468HP:0008734Decreased testicular size1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0010468HP:0008734Decreased testicular size1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0010468HP:0008734Decreased testicular size1SOHLH1 CL E G H40238127845ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent3
HP:0010468HP:0008734Decreased testicular size1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0010468HP:0008734Decreased testicular size1SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent24
HP:0010468HP:0008734Decreased testicular size1SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0010468HP:0008734Decreased testicular size1SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent109
HP:0010468HP:0008734Decreased testicular size1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0010468HP:0008734Decreased testicular size1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0010468HP:0008734Decreased testicular size1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0010468HP:0008734Decreased testicular size1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0010468HP:0008734Decreased testicular size1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0010468HP:0008734Decreased testicular size1SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent23
HP:0010468HP:0008734Decreased testicular size1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0010468HP:0008734Decreased testicular size1SYCE1 CL E G H9342628852ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent4
HP:0010468HP:0008734Decreased testicular size1SYCP3 CL E G H5051118130ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent12
HP:0010468HP:0008734Decreased testicular size1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0010468HP:0008734Decreased testicular size1TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia.34
HP:0010468HP:0008734Decreased testicular size1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0010468HP:0008734Decreased testicular size1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0010468HP:0008734Decreased testicular size1TAF4B CL E G H687511538ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent1
HP:0010468HP:0008734Decreased testicular size1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0010468HP:0010469Absent testis1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0010468HP:0008734Decreased testicular size1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0010468HP:0008734Decreased testicular size1TDRD9 CL E G H12240220122ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1TEX11 CL E G H5615911733ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent5
HP:0010468HP:0008734Decreased testicular size1TEX14 CL E G H5615511737ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent1
HP:0010468HP:0008734Decreased testicular size1TEX15 CL E G H5615411738ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent1
HP:0010468HP:0008734Decreased testicular size1TEX15 CL E G H5615411738OMIM:617960Spermatogenic failure 25.1
HP:0010468HP:0008734Decreased testicular size1THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0010468HP:0008734Decreased testicular size1TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0010468HP:0008734Decreased testicular size1TSPY1 CL E G H725812381ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent
HP:0010468HP:0008734Decreased testicular size1TYMS CL E G H729812441OMIM:6200401
HP:0010468HP:0010469Absent testis1UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0010468HP:0008734Decreased testicular size1USP9Y CL E G H828712633ORPHA:1646Partial chromosome Y deletionHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0010468HP:0008734Decreased testicular size1WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmiaHP:0040283 - Occasional10
HP:0010468HP:0008734Decreased testicular size1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0010468HP:0008734Decreased testicular size1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0010468HP:0008734Decreased testicular size1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0010468HP:0008734Decreased testicular size1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0010468HP:0008734Decreased testicular size1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0010468HP:0008734Decreased testicular size1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0010468HP:0008734Decreased testicular size1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0010468HP:0010469Absent testis1XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0010468HP:0008734Decreased testicular size1XRCC2 CL E G H751612829ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent125
HP:0010468HP:0008734Decreased testicular size1XRCC2 CL E G H751612829OMIM:619145SPERMATOGENIC FAILURE 50; SPGF50125
HP:0010468HP:0008734Decreased testicular size1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0010468HP:0008734Decreased testicular size1ZMYND15 CL E G H8422520997ORPHA:399805Male infertility with azoospermia or oligozoospermia due to single gene mutationHP:0040281 - Very frequent1
HP:0010468HP:0008734Decreased testicular size1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (169) :ALMS1 ANOS1 ARL6 ARX ATRX AXL B4GAT1 BBS1 BRCA1 BRCA2 BRCC3 BRIP1 C14ORF39 CCDC141 CCDC28B CCDC34 CDKN1C CFTR CHD7 CHRM3 CTDP1 CUL4B CUL7 CYB5A CYP11A1 CYP11B1 CYP17A1 DAZ1 DAZ2 DAZ3 DAZ4 DCAF17 DCC DDB2 DDX3Y DHX37 DKC1 DMRT3 DMXL2 DNAJC19 DUSP6 ERCC2 ERCC3 ERCC4 ERCC5 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FOXA2 FSHB GATA4 GBA2 GDF6 GLI2 GLI3 GNRH1 GNRHR HDAC8 HESX1 HS6ST1 HSD3B2 HSPG2 IL17RD KCNJ6 KDM5C KISS1 KISS1R KLHL10 LEP LEPR LHCGR LHX4 MAD2L2 MAGEL2 MAP3K1 MAP3K7 MBTPS2 MCM8 MEIOB NAA10 NANOS1 NDN NDNF NR0B1 NR5A1 NSMF OCA2 OGT OTX2 PALB2 PHF6 PHF8 PHGDH PMM2 PNLDC1 POLA1 POU1F1 PQBP1 PROK2 PROKR2 PROP1 RAB18 RAD51 RAD51C RBMY1A1 RFWD3 RLIM RPL10 RPL10L RSPO1 SAMD9 SATB2 SEMA3A SEMA3E SIM1 SLC29A3 SLC39A4 SLX4 SNRPN SOHLH1 SOX10 SOX3 SOX9 SPRY4 SRA1 SRY SYCE1 SYCP3 TAC3 TACR3 TAF4B TBC1D20 TCTN3 TDRD9 TEX11 TEX14 TEX15 THOC2 TOGARAM1 TSPY1 TYMS UBE2T USP9Y VAMP7 WDR11 WRN WT1 WWOX XPA XPC XRCC2 ZFPM2 ZMYND15 ZPR1

Diseases (103) :ORPHA:64 OMIM:308700 ORPHA:478 OMIM:209900 OMIM:300215 OMIM:309580 OMIM:146110 OMIM:615287 ORPHA:84 ORPHA:280679 ORPHA:399805 ORPHA:436144 ORPHA:432 ORPHA:2970 OMIM:604168 OMIM:300354 ORPHA:85293 OMIM:273750 ORPHA:90796 ORPHA:168558 ORPHA:289548 OMIM:202010 ORPHA:1646 OMIM:241080 ORPHA:3464 ORPHA:910 ORPHA:251510 ORPHA:983 OMIM:305000 ORPHA:453533 OMIM:610198 ORPHA:93325 OMIM:618086 ORPHA:284979 OMIM:616030 ORPHA:261483 ORPHA:95494 OMIM:229070 ORPHA:52901 ORPHA:320391 OMIM:613094 OMIM:146510 ORPHA:672 OMIM:614841 OMIM:300882 OMIM:614880 ORPHA:90791 ORPHA:800 OMIM:255800 ORPHA:435628 OMIM:300534 ORPHA:85279 OMIM:614837 OMIM:614962 ORPHA:66628 ORPHA:179494 OMIM:176410 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:157800 ORPHA:85284 OMIM:612885 OMIM:300855 ORPHA:399808 ORPHA:393 OMIM:614838 OMIM:300997 ORPHA:127 ORPHA:85287 OMIM:601815 ORPHA:79318 OMIM:619528 ORPHA:163976 OMIM:309500 ORPHA:93950 OMIM:610628 ORPHA:90695 OMIM:614222 OMIM:300978 OMIM:300998 ORPHA:459070 OMIM:619689 OMIM:610644 OMIM:617053 ORPHA:251019 ORPHA:251028 OMIM:614897 ORPHA:398079 ORPHA:168569 OMIM:201100 OMIM:614840 OMIM:615663 ORPHA:2753 OMIM:617960 ORPHA:457240 OMIM:619185 OMIM:620040 OMIM:614858 ORPHA:902 OMIM:619145 OMIM:619321
 

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