Human Phenotype Ontology 
Grandparent Node:
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Abnormality of male external genitalia (HP:0000032)help
Parent Node:
expand
Abnormal testis morphology (HP:0000035)help
..Starting node
..expand
Cryptorchidism (HP:0000028)help
Term ID: 28
Name: Cryptorchidism
Synonym: Cryptorchism; Undescended testes; Undescended testis
Definition: Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.
Comments:
Reference: HP:0000028
Genes and Diseases:
 
       Child Nodes:
........expandBilateral cryptorchidism (HP:0008689) help
........expandUnilateral cryptorchidism (HP:0012741) help

 Sister Nodes: 
..expandAbnormality of the Leydig cells (HP:0010789) help
..expandAbnormality of the testis size (HP:0045058) help
..expandAnorchism (HP:0030869) help
..expandDysplastic testes (HP:0008733) help
..expandHydrocele testis (HP:0000034) help
..expandIntratesticular abscess (HP:0025038) help
..expandMonorchism (HP:0030868) help
..expandOrchitis (HP:0100796) help
..expandPrimary testicular failure (HP:0008720) help
..expandRetractile testis (HP:0012646) help
..expandSupernumerary testes (HP:0010470) help
..expandTesticular atrophy (HP:0000029) help
..expandTesticular dysgenesis (HP:0008715) help
..expandTesticular fibrosis (HP:0012860) help
..expandTesticular lipomatosis (HP:0025476) help
..expandTesticular microlithiasis (HP:0012215) help
..expandTesticular neoplasm (HP:0010788) help
..expandTesticular torsion (HP:0100813) help
..expandVanishing testis (HP:0012870) 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:0000028HP:0000028Cryptorchidism0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0000028HP:0000028Cryptorchidism0ABL1 CL E G H2576OMIM:617602Congenital heart defects and skeletal malformations syndromeHP:0040284 - Very rare51
HP:0000028HP:0000028Cryptorchidism0ACTA2 CL E G H59130OMIM:613834Multisystemic smooth muscle dysfunction syndrome.94
HP:0000028HP:0000028Cryptorchidism0ACTB CL E G H60132OMIM:243310Baraitser-Winter syndrome 1.72
HP:0000028HP:0000028Cryptorchidism0ACTG2 CL E G H72145ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional23
HP:0000028HP:0000028Cryptorchidism0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000028HP:0000028Cryptorchidism0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndromeHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000028HP:0000028Cryptorchidism0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000028HP:0000028Cryptorchidism0AFF4 CL E G H2712517869OMIM:616368CHOPS syndrome.6
HP:0000028HP:0000028Cryptorchidism0AKR1C2 CL E G H1646385OMIM:61427946,xy sex reversal 8.7
HP:0000028HP:0000028Cryptorchidism0AKR1C4 CL E G H1109387OMIM:61427946,xy sex reversal 8.3
HP:0000028HP:0000028Cryptorchidism0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIAHP:0040283 - Occasional89
HP:0000028HP:0000028Cryptorchidism0ALDH1A2 CL E G H885415472OMIM:620025
HP:0000028HP:0000028Cryptorchidism0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040283 - Occasional68
HP:0000028HP:0000028Cryptorchidism0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0000028HP:0000028Cryptorchidism0ALG8 CL E G H7905323161OMIM:608104Congenital disorder of glycosylation, type Ih.46
HP:0000028HP:0000028Cryptorchidism0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000028HP:0000028Cryptorchidism0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000028HP:0000028Cryptorchidism0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000028HP:0000028Cryptorchidism0AMH CL E G H268464ORPHA:2856Persistent Müllerian duct syndromeHP:0040281 - Very frequent9
HP:0000028HP:0000028Cryptorchidism0AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0000028HP:0000028Cryptorchidism0AMHR2 CL E G H269465ORPHA:2856Persistent Müllerian duct syndromeHP:0040281 - Very frequent8
HP:0000028HP:0000028Cryptorchidism0AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0000028HP:0000028Cryptorchidism0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0000028HP:0000028Cryptorchidism0ANKLE2 CL E G H2314129101OMIM:616681Microcephaly 16, primary, autosomal recessive.3
HP:0000028HP:0000028Cryptorchidism0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040283 - Occasional102
HP:0000028HP:0000028Cryptorchidism0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
HP:0000028HP:0000028Cryptorchidism0ANKRD11 CL E G H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000028HP:0000028Cryptorchidism0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0000028HP:0000028Cryptorchidism0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040282 - Frequent65
HP:0000028HP:0000028Cryptorchidism0AP1S2 CL E G H8905560ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeHP:0040281 - Very frequent13
HP:0000028HP:0000028Cryptorchidism0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000028HP:0000028Cryptorchidism0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0000028HP:0000028Cryptorchidism0AR CL E G H367644ORPHA:95706Non-syndromic posterior hypospadiasHP:0040282 - Frequent125
HP:0000028HP:0000028Cryptorchidism0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0000028HP:0000028Cryptorchidism0AR CL E G H367644OMIM:312300Reifenstein syndrome125
HP:0000028HP:0000028Cryptorchidism0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000028HP:0000028Cryptorchidism0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent88
HP:0000028HP:0000028Cryptorchidism0ARID1A CL E G H828911110OMIM:614607Coffin-Siris syndrome 288
HP:0000028HP:0000028Cryptorchidism0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent219
HP:0000028HP:0000028Cryptorchidism0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000028HP:0000028Cryptorchidism0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent25
HP:0000028HP:0000028Cryptorchidism0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional29
HP:0000028HP:0000028Cryptorchidism0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0ARNT2 CL E G H991516876OMIM:615926Webb-Dattani syndrome.
HP:0000028HP:0000028Cryptorchidism0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0ARX CL E G H17030218060OMIM:300004Corpus callosum, agenesis of, with abnormal genitalia.166
HP:0000028HP:0000028Cryptorchidism0ARX CL E G H17030218060ORPHA:452X-linked lissencephaly with abnormal genitaliaHP:0040281 - Very frequent166
HP:0000028HP:0000028Cryptorchidism0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0000028HP:0000028Cryptorchidism0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000028HP:0000028Cryptorchidism0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000028HP:0000028Cryptorchidism0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0000028HP:0000028Cryptorchidism0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
HP:0000028HP:0000028Cryptorchidism0ATP6V0A2 CL E G H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000028HP:0000028Cryptorchidism0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID3
HP:0000028HP:0000028Cryptorchidism0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC2
HP:0000028HP:0000028Cryptorchidism0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0000028HP:0000028Cryptorchidism0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040281 - Very frequent169
HP:0000028HP:0000028Cryptorchidism0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0000028HP:0000028Cryptorchidism0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000028HP:0000028Cryptorchidism0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0000028HP:0000028Cryptorchidism0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000028HP:0000028Cryptorchidism0B3GALNT2 CL E G H14878928596ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent43
HP:0000028HP:0000028Cryptorchidism0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040282 - Frequent36
HP:0000028HP:0000028Cryptorchidism0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000028HP:0000028Cryptorchidism0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent29
HP:0000028HP:0000028Cryptorchidism0B4GAT1 CL E G H1104115685ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent17
HP:0000028HP:0000028Cryptorchidism0B9D1 CL E G H2707724123ORPHA:564Meckel syndromeHP:0040282 - Frequent28
HP:0000028HP:0000028Cryptorchidism0B9D2 CL E G H8077628636ORPHA:564Meckel syndromeHP:0040282 - Frequent34
HP:0000028HP:0000028Cryptorchidism0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional114
HP:0000028HP:0000028Cryptorchidism0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional118
HP:0000028HP:0000028Cryptorchidism0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional71
HP:0000028HP:0000028Cryptorchidism0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional97
HP:0000028HP:0000028Cryptorchidism0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional87
HP:0000028HP:0000028Cryptorchidism0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 487
HP:0000028HP:0000028Cryptorchidism0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional25
HP:0000028HP:0000028Cryptorchidism0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional66
HP:0000028HP:0000028Cryptorchidism0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional119
HP:0000028HP:0000028Cryptorchidism0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent101
HP:0000028HP:0000028Cryptorchidism0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1.101
HP:0000028HP:0000028Cryptorchidism0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000028HP:0000028Cryptorchidism0BDNF CL E G H6271033ORPHA:893WAGR syndromeHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000028HP:0000028Cryptorchidism0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional99
HP:0000028HP:0000028Cryptorchidism0BLM CL E G H6411058OMIM:210900Bloom syndrome.314
HP:0000028HP:0000028Cryptorchidism0BMP4 CL E G H6521071ORPHA:139471Microphthalmia with brain and digit anomaliesHP:0040283 - Occasional38
HP:0000028HP:0000028Cryptorchidism0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000028HP:0000028Cryptorchidism0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent276
HP:0000028HP:0000028Cryptorchidism0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1276
HP:0000028HP:0000028Cryptorchidism0BRAF CL E G H6731097ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent276
HP:0000028HP:0000028Cryptorchidism0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000028HP:0000028Cryptorchidism0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000028HP:0000028Cryptorchidism0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0000028HP:0000028Cryptorchidism0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0000028HP:0000028Cryptorchidism0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000028HP:0000028Cryptorchidism0BRWD3 CL E G H25406517342OMIM:300659MENTAL RETARDATION, X-LINKED 93; MRX93104
HP:0000028HP:0000028Cryptorchidism0BUB1B CL E G H7011149OMIM:257300Mosaic variegated aneuploidy syndrome 1.76
HP:0000028HP:0000028Cryptorchidism0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 1427
HP:0000028HP:0000028Cryptorchidism0C2CD3 CL E G H2600524564OMIM:615948Orofaciodigital syndrome XIV.27
HP:0000028HP:0000028Cryptorchidism0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0000028HP:0000028Cryptorchidism0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040282 - Frequent317
HP:0000028HP:0000028Cryptorchidism0CBL CL E G H8671541OMIM:613563Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia.317
HP:0000028HP:0000028Cryptorchidism0CC2D2A CL E G H5754529253ORPHA:564Meckel syndromeHP:0040282 - Frequent247
HP:0000028HP:0000028Cryptorchidism0CCBE1 CL E G H14737229426OMIM:235510Hennekam lymphangiectasia-lymphedema syndrome.147
HP:0000028HP:0000028Cryptorchidism0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000028HP:0000028Cryptorchidism0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0CCDC174 CL E G H5124428033OMIM:616816Hypotonia, infantile, with psychomotor retardation1
HP:0000028HP:0000028Cryptorchidism0CCDC22 CL E G H2895228909OMIM:300963Ritscher-Schinzel syndrome 2.33
HP:0000028HP:0000028Cryptorchidism0CCDC32 CL E G H9041628295OMIM:619123CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS1
HP:0000028HP:0000028Cryptorchidism0CD96 CL E G H1022516892ORPHA:1308C syndromeHP:0040281 - Very frequent83
HP:0000028HP:0000028Cryptorchidism0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0000028HP:0000028Cryptorchidism0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0000028HP:0000028Cryptorchidism0CDC42BPB CL E G H95781738OMIM:619841
HP:0000028HP:0000028Cryptorchidism0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0000028HP:0000028Cryptorchidism0CDC45 CL E G H83181739OMIM:617063Meier-Gorlin syndrome 7.9
HP:0000028HP:0000028Cryptorchidism0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0000028HP:0000028Cryptorchidism0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0000028HP:0000028Cryptorchidism0CDCA7 CL E G H8387914628OMIM:616910Immunodeficiency-Centromeric instability-facial anomalies syndrome 34
HP:0000028HP:0000028Cryptorchidism0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0000028HP:0000028Cryptorchidism0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000028HP:0000028Cryptorchidism0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000028HP:0000028Cryptorchidism0CDKN1C CL E G H10281786OMIM:130650Beckwith-Wiedemann syndrome.114
HP:0000028HP:0000028Cryptorchidism0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0000028HP:0000028Cryptorchidism0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0000028HP:0000028Cryptorchidism0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0000028HP:0000028Cryptorchidism0CDON CL E G H5093717104ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional200
HP:0000028HP:0000028Cryptorchidism0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0000028HP:0000028Cryptorchidism0CDT1 CL E G H8162024576OMIM:613804Meier-Gorlin syndrome 4.50
HP:0000028HP:0000028Cryptorchidism0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0000028HP:0000028Cryptorchidism0CEP152 CL E G H2299529298OMIM:613823Seckel syndrome 5HP:0040283 - Occasional146
HP:0000028HP:0000028Cryptorchidism0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional342
HP:0000028HP:0000028Cryptorchidism0CEP290 CL E G H8018429021ORPHA:564Meckel syndromeHP:0040282 - Frequent342
HP:0000028HP:0000028Cryptorchidism0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia.515
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040282 - Frequent515
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000028HP:0000028Cryptorchidism0CHRM3 CL E G H11311952ORPHA:2970Prune belly syndromeHP:0040281 - Very frequent4
HP:0000028HP:0000028Cryptorchidism0CHRM3 CL E G H11311952OMIM:100100Prune belly syndrome.4
HP:0000028HP:0000028Cryptorchidism0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional68
HP:0000028HP:0000028Cryptorchidism0CHRNG CL E G H11461967OMIM:265000Multiple pterygium syndrome, escobar variant.68
HP:0000028HP:0000028Cryptorchidism0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1HP:0040281 - Very frequent27
HP:0000028HP:0000028Cryptorchidism0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0000028HP:0000028Cryptorchidism0CILK1 CL E G H2285821219OMIM:612651ENDOCRINE-CEREBROOSTEODYSPLASIA.
HP:0000028HP:0000028Cryptorchidism0CITED2 CL E G H103701987ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0000028HP:0000028Cryptorchidism0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0000028HP:0000028Cryptorchidism0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000028HP:0000028Cryptorchidism0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040284 - Very rare45
HP:0000028HP:0000028Cryptorchidism0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000028HP:0000028Cryptorchidism0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0000028HP:0000028Cryptorchidism0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000028HP:0000028Cryptorchidism0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0000028HP:0000028Cryptorchidism0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040281 - Very frequent749
HP:0000028HP:0000028Cryptorchidism0COL4A1 CL E G H12822202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent193
HP:0000028HP:0000028Cryptorchidism0COLEC10 CL E G H105842220ORPHA:2938433MC syndrome3
HP:0000028HP:0000028Cryptorchidism0COLEC10 CL E G H105842220OMIM:2483403MC syndrome 33
HP:0000028HP:0000028Cryptorchidism0COLEC11 CL E G H7898917213ORPHA:2938433MC syndrome9
HP:0000028HP:0000028Cryptorchidism0COLEC11 CL E G H7898917213OMIM:2650503mc syndrome 2.9
HP:0000028HP:0000028Cryptorchidism0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000028HP:0000028Cryptorchidism0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000028HP:0000028Cryptorchidism0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6
HP:0000028HP:0000028Cryptorchidism0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
HP:0000028HP:0000028Cryptorchidism0CPLX1 CL E G H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000028HP:0000028Cryptorchidism0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000028HP:0000028Cryptorchidism0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000028HP:0000028Cryptorchidism0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000028HP:0000028Cryptorchidism0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000028HP:0000028Cryptorchidism0CRPPA CL E G H72992037276ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0CSPP1 CL E G H7984826193ORPHA:564Meckel syndromeHP:0040282 - Frequent57
HP:0000028HP:0000028Cryptorchidism0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0CTBP1 CL E G H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000028HP:0000028Cryptorchidism0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000028HP:0000028Cryptorchidism0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000028HP:0000028Cryptorchidism0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000028HP:0000028Cryptorchidism0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000028HP:0000028Cryptorchidism0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000028HP:0000028Cryptorchidism0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040282 - Frequent53
HP:0000028HP:0000028Cryptorchidism0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000028HP:0000028Cryptorchidism0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000028HP:0000028Cryptorchidism0DACT1 CL E G H5133917748ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0DAG1 CL E G H16052666ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent108
HP:0000028HP:0000028Cryptorchidism0DAZ1 CL E G H16172682ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DAZ2 CL E G H5705515964ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DAZ3 CL E G H5705415965ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DAZ4 CL E G H5713515966ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040282 - Frequent36
HP:0000028HP:0000028Cryptorchidism0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent30
HP:0000028HP:0000028Cryptorchidism0DDX3Y CL E G H86532699ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000028HP:0000028Cryptorchidism0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000028HP:0000028Cryptorchidism0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0000028HP:0000028Cryptorchidism0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0000028HP:0000028Cryptorchidism0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0000028HP:0000028Cryptorchidism0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000028HP:0000028Cryptorchidism0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000028HP:0000028Cryptorchidism0DHDDS CL E G H7994720603OMIM:613861Retinitis pigmentosa 59.47
HP:0000028HP:0000028Cryptorchidism0DHODH CL E G H17232867OMIM:263750Postaxial acrofacial dysostosis.59
HP:0000028HP:0000028Cryptorchidism0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0DIS3L2 CL E G H12956328648OMIM:267000Perlman syndrome.164
HP:0000028HP:0000028Cryptorchidism0DIS3L2 CL E G H12956328648ORPHA:2849Perlman syndromeHP:0040282 - Frequent164
HP:0000028HP:0000028Cryptorchidism0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000028HP:0000028Cryptorchidism0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0DLL3 CL E G H106832909ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000028HP:0000028Cryptorchidism0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 15.1
HP:0000028HP:0000028Cryptorchidism0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent1
HP:0000028HP:0000028Cryptorchidism0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0000028HP:0000028Cryptorchidism0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0000028HP:0000028Cryptorchidism0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000028HP:0000028Cryptorchidism0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional167
HP:0000028HP:0000028Cryptorchidism0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040283 - Occasional44
HP:0000028HP:0000028Cryptorchidism0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent91
HP:0000028HP:0000028Cryptorchidism0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type IjHP:0040283 - Occasional38
HP:0000028HP:0000028Cryptorchidism0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000028HP:0000028Cryptorchidism0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0000028HP:0000028Cryptorchidism0DTYMK CL E G H18413061OMIM:619847
HP:0000028HP:0000028Cryptorchidism0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0000028HP:0000028Cryptorchidism0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040282 - Frequent4
HP:0000028HP:0000028Cryptorchidism0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000028HP:0000028Cryptorchidism0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0000028HP:0000028Cryptorchidism0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 1.14
HP:0000028HP:0000028Cryptorchidism0DVL1 CL E G H18553084OMIM:616331Robinow syndrome, autosomal dominant 2.14
HP:0000028HP:0000028Cryptorchidism0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0DVL3 CL E G H18573087OMIM:616894ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS35
HP:0000028HP:0000028Cryptorchidism0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent304
HP:0000028HP:0000028Cryptorchidism0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0DYNC2I2 CL E G H8989128296OMIM:615633Short-Rib thoracic dysplasia 11 with or without polydactylyHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent7
HP:0000028HP:0000028Cryptorchidism0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000028HP:0000028Cryptorchidism0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040284 - Very rare134
HP:0000028HP:0000028Cryptorchidism0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0000028HP:0000028Cryptorchidism0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0000028HP:0000028Cryptorchidism0EBP CL E G H106823133OMIM:300960Mend syndrome.51
HP:0000028HP:0000028Cryptorchidism0EED CL E G H87263188OMIM:617561Cohen-Gibson syndrome4
HP:0000028HP:0000028Cryptorchidism0EED CL E G H87263188ORPHA:3447Weaver syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000028HP:0000028Cryptorchidism0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000028HP:0000028Cryptorchidism0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000028HP:0000028Cryptorchidism0EIF2S3 CL E G H19683267ORPHA:85282MEHMO syndromeHP:0040281 - Very frequent8
HP:0000028HP:0000028Cryptorchidism0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000028HP:0000028Cryptorchidism0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000028HP:0000028Cryptorchidism0EMG1 CL E G H1043616912ORPHA:1270Bowen-Conradi syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000028HP:0000028Cryptorchidism0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000028HP:0000028Cryptorchidism0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare20
HP:0000028HP:0000028Cryptorchidism0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000028HP:0000028Cryptorchidism0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent106
HP:0000028HP:0000028Cryptorchidism0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000028HP:0000028Cryptorchidism0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent54
HP:0000028HP:0000028Cryptorchidism0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare158
HP:0000028HP:0000028Cryptorchidism0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000028HP:0000028Cryptorchidism0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent158
HP:0000028HP:0000028Cryptorchidism0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent83
HP:0000028HP:0000028Cryptorchidism0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0000028HP:0000028Cryptorchidism0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare199
HP:0000028HP:0000028Cryptorchidism0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare199
HP:0000028HP:0000028Cryptorchidism0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000028HP:0000028Cryptorchidism0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000028HP:0000028Cryptorchidism0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000028HP:0000028Cryptorchidism0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare55
HP:0000028HP:0000028Cryptorchidism0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare55
HP:0000028HP:0000028Cryptorchidism0ESCO2 CL E G H15757027230ORPHA:3103Roberts syndromeHP:0040282 - Frequent92
HP:0000028HP:0000028Cryptorchidism0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0000028HP:0000028Cryptorchidism0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0000028HP:0000028Cryptorchidism0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent209
HP:0000028HP:0000028Cryptorchidism0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0000028HP:0000028Cryptorchidism0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent137
HP:0000028HP:0000028Cryptorchidism0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0000028HP:0000028Cryptorchidism0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000028HP:0000028Cryptorchidism0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0000028HP:0000028Cryptorchidism0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000028HP:0000028Cryptorchidism0EZH2 CL E G H21463527ORPHA:3447Weaver syndromeHP:0040283 - Occasional81
HP:0000028HP:0000028Cryptorchidism0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000028HP:0000028Cryptorchidism0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000028HP:0000028Cryptorchidism0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000028HP:0000028Cryptorchidism0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000028HP:0000028Cryptorchidism0FANCB CL E G H21873583ORPHA:3412VACTERL with hydrocephalusHP:0040283 - Occasional58
HP:0000028HP:0000028Cryptorchidism0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000028HP:0000028Cryptorchidism0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0000028HP:0000028Cryptorchidism0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000028HP:0000028Cryptorchidism0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2.147
HP:0000028HP:0000028Cryptorchidism0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000028HP:0000028Cryptorchidism0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000028HP:0000028Cryptorchidism0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000028HP:0000028Cryptorchidism0FANCF CL E G H21883587OMIM:603467FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF87
HP:0000028HP:0000028Cryptorchidism0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000028HP:0000028Cryptorchidism0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000028HP:0000028Cryptorchidism0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000028HP:0000028Cryptorchidism0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000028HP:0000028Cryptorchidism0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 7736
HP:0000028HP:0000028Cryptorchidism0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0000028HP:0000028Cryptorchidism0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0000028HP:0000028Cryptorchidism0FBN1 CL E G H22003603ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional1361
HP:0000028HP:0000028Cryptorchidism0FBXW7 CL E G H5529416712OMIM:62001222
HP:0000028HP:0000028Cryptorchidism0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000028HP:0000028Cryptorchidism0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0000028HP:0000028Cryptorchidism0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0000028HP:0000028Cryptorchidism0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
HP:0000028HP:0000028Cryptorchidism0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000028HP:0000028Cryptorchidism0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000028HP:0000028Cryptorchidism0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0000028HP:0000028Cryptorchidism0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040282 - Frequent3
HP:0000028HP:0000028Cryptorchidism0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000028HP:0000028Cryptorchidism0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000028HP:0000028Cryptorchidism0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040282 - Frequent17
HP:0000028HP:0000028Cryptorchidism0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688OMIM:613001Encephalocraniocutaneous lipomatosis.172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688OMIM:615465Hartsfield syndrome.172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040282 - Frequent172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040283 - Occasional172
HP:0000028HP:0000028Cryptorchidism0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent172
HP:0000028HP:0000028Cryptorchidism0FGFR2 CL E G H22633689OMIM:101200Apert syndrome.175
HP:0000028HP:0000028Cryptorchidism0FGFR2 CL E G H22633689ORPHA:1555Cutis gyrata-acanthosis nigricans-craniosynostosis syndromeHP:0040283 - Occasional175
HP:0000028HP:0000028Cryptorchidism0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000028HP:0000028Cryptorchidism0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0000028HP:0000028Cryptorchidism0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000028HP:0000028Cryptorchidism0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0000028HP:0000028Cryptorchidism0FGFRL1 CL E G H538343693OMIM:194190Wolf-Hirschhorn syndrome
HP:0000028HP:0000028Cryptorchidism0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
HP:0000028HP:0000028Cryptorchidism0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000028HP:0000028Cryptorchidism0FKBP6 CL E G H84683722OMIM:620103
HP:0000028HP:0000028Cryptorchidism0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional157
HP:0000028HP:0000028Cryptorchidism0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1157
HP:0000028HP:0000028Cryptorchidism0FKRP CL E G H7914717997ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent157
HP:0000028HP:0000028Cryptorchidism0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1184
HP:0000028HP:0000028Cryptorchidism0FKTN CL E G H22183622ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent184
HP:0000028HP:0000028Cryptorchidism0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040283 - Occasional63
HP:0000028HP:0000028Cryptorchidism0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000028HP:0000028Cryptorchidism0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0000028HP:0000028Cryptorchidism0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0000028HP:0000028Cryptorchidism0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040282 - Frequent233
HP:0000028HP:0000028Cryptorchidism0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0000028HP:0000028Cryptorchidism0FLNB CL E G H23173755ORPHA:503Larsen syndromeHP:0040283 - Occasional233
HP:0000028HP:0000028Cryptorchidism0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040282 - Frequent4
HP:0000028HP:0000028Cryptorchidism0FLT4 CL E G H23243767ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent90
HP:0000028HP:0000028Cryptorchidism0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0000028HP:0000028Cryptorchidism0FRAS1 CL E G H8014419185ORPHA:2052Fraser syndromeHP:0040283 - Occasional353
HP:0000028HP:0000028Cryptorchidism0FRAS1 CL E G H8014419185OMIM:219000Fraser syndrome.353
HP:0000028HP:0000028Cryptorchidism0FREM2 CL E G H34164025396ORPHA:2052Fraser syndromeHP:0040283 - Occasional263
HP:0000028HP:0000028Cryptorchidism0FTO CL E G H7906824678OMIM:612938Growth retardation, developmental delay, coarse facies, and earlydeath.70
HP:0000028HP:0000028Cryptorchidism0FUZ CL E G H8019926219ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0000028HP:0000028Cryptorchidism0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0000028HP:0000028Cryptorchidism0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0000028HP:0000028Cryptorchidism0G6PC3 CL E G H9257924861OMIM:612541Neutropenia, severe congenital, 4, autosomal recessive.37
HP:0000028HP:0000028Cryptorchidism0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000028HP:0000028Cryptorchidism0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0000028HP:0000028Cryptorchidism0GATA1 CL E G H26234170ORPHA:67044Thrombocytopenia with congenital dyserythropoietic anemiaHP:0040281 - Very frequent29
HP:0000028HP:0000028Cryptorchidism0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent87
HP:0000028HP:0000028Cryptorchidism0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000028HP:0000028Cryptorchidism0GATA4 CL E G H26264173OMIM:615542Testicular anomalies with or without congenital heart disease.87
HP:0000028HP:0000028Cryptorchidism0GATA4 CL E G H26264173ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent87
HP:0000028HP:0000028Cryptorchidism0GATA5 CL E G H14062815802ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent10
HP:0000028HP:0000028Cryptorchidism0GATA6 CL E G H26274174ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent37
HP:0000028HP:0000028Cryptorchidism0GDF1 CL E G H26574214ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent28
HP:0000028HP:0000028Cryptorchidism0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0000028HP:0000028Cryptorchidism0GJA5 CL E G H27024279ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent39
HP:0000028HP:0000028Cryptorchidism0GK CL E G H27104289OMIM:307030Glycerol kinase deficiencyHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0000028HP:0000028Cryptorchidism0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent1
HP:0000028HP:0000028Cryptorchidism0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0000028HP:0000028Cryptorchidism0GLI2 CL E G H27364318OMIM:610829Holoprosencephaly 9.173
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional270
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319OMIM:175700Greig cephalopolysyndactyly syndrome270
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319ORPHA:93322Tibial hemimeliaHP:0040284 - Very rare270
HP:0000028HP:0000028Cryptorchidism0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0000028HP:0000028Cryptorchidism0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0000028HP:0000028Cryptorchidism0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional34
HP:0000028HP:0000028Cryptorchidism0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000028HP:0000028Cryptorchidism0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia.15
HP:0000028HP:0000028Cryptorchidism0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0000028HP:0000028Cryptorchidism0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000028HP:0000028Cryptorchidism0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0000028HP:0000028Cryptorchidism0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000028HP:0000028Cryptorchidism0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000028HP:0000028Cryptorchidism0GPC3 CL E G H27194451ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent73
HP:0000028HP:0000028Cryptorchidism0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0000028HP:0000028Cryptorchidism0GPC4 CL E G H22394452ORPHA:373Simpson-Golabi-Behmel syndromeHP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0000028HP:0000028Cryptorchidism0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040282 - Frequent99
HP:0000028HP:0000028Cryptorchidism0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0000028HP:0000028Cryptorchidism0GPR161 CL E G H2343223694ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000028HP:0000028Cryptorchidism0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000028HP:0000028Cryptorchidism0GRIN2B CL E G H29044586OMIM:613970Mental retardation, autosomal dominant 6, with or without seizures274
HP:0000028HP:0000028Cryptorchidism0GRIP1 CL E G H2342618708ORPHA:2052Fraser syndromeHP:0040283 - Occasional80
HP:0000028HP:0000028Cryptorchidism0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0000028HP:0000028Cryptorchidism0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000028HP:0000028Cryptorchidism0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0H1-4 CL E G H30084718OMIM:617537Rahman syndrome
HP:0000028HP:0000028Cryptorchidism0H19 CL E G H2831204713ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0H19-ICR CL E G H105259599OMIM:130650Beckwith-Wiedemann syndrome.
HP:0000028HP:0000028Cryptorchidism0H4C9 CL E G H82944793OMIM:619951
HP:0000028HP:0000028Cryptorchidism0HBA1 CL E G H30394823ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent200
HP:0000028HP:0000028Cryptorchidism0HBA2 CL E G H30404824ORPHA:98791Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16HP:0040282 - Frequent88
HP:0000028HP:0000028Cryptorchidism0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000028HP:0000028Cryptorchidism0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000028HP:0000028Cryptorchidism0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000028HP:0000028Cryptorchidism0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent37
HP:0000028HP:0000028Cryptorchidism0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000028HP:0000028Cryptorchidism0HES7 CL E G H8466715977ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional10
HP:0000028HP:0000028Cryptorchidism0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040282 - Frequent21
HP:0000028HP:0000028Cryptorchidism0HESX1 CL E G H88204877ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional21
HP:0000028HP:0000028Cryptorchidism0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent21
HP:0000028HP:0000028Cryptorchidism0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040283 - Occasional32
HP:0000028HP:0000028Cryptorchidism0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0000028HP:0000028Cryptorchidism0HNRNPH1 CL E G H31875041OMIM:620083
HP:0000028HP:0000028Cryptorchidism0HNRNPK CL E G H31905044OMIM:616580Au-Kline syndrome.8
HP:0000028HP:0000028Cryptorchidism0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0000028HP:0000028Cryptorchidism0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0000028HP:0000028Cryptorchidism0HNRNPR CL E G H102365047OMIM:620073
HP:0000028HP:0000028Cryptorchidism0HOXD13 CL E G H32395136ORPHA:887VACTERL/VATER associationHP:0040283 - Occasional25
HP:0000028HP:0000028Cryptorchidism0HPSE2 CL E G H6049518374ORPHA:2704Ochoa syndromeHP:0040282 - Frequent9
HP:0000028HP:0000028Cryptorchidism0HPSE2 CL E G H6049518374OMIM:236730Urofacial syndrome.9
HP:0000028HP:0000028Cryptorchidism0HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0000028HP:0000028Cryptorchidism0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0000028HP:0000028Cryptorchidism0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0000028HP:0000028Cryptorchidism0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia.8
HP:0000028HP:0000028Cryptorchidism0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040282 - Frequent8
HP:0000028HP:0000028Cryptorchidism0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000028HP:0000028Cryptorchidism0HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyHP:0040281 - Very frequent31
HP:0000028HP:0000028Cryptorchidism0HSD3B2 CL E G H32845218ORPHA:90791Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiencyHP:0040283 - Occasional34
HP:0000028HP:0000028Cryptorchidism0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000028HP:0000028Cryptorchidism0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0000028HP:0000028Cryptorchidism0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0000028HP:0000028Cryptorchidism0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000028HP:0000028Cryptorchidism0HYLS1 CL E G H21984426558ORPHA:2189HydrolethalusHP:0040283 - Occasional31
HP:0000028HP:0000028Cryptorchidism0HYMAI CL E G H570615326ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndromeHP:0040283 - Occasional6
HP:0000028HP:0000028Cryptorchidism0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional48
HP:0000028HP:0000028Cryptorchidism0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000028HP:0000028Cryptorchidism0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent65
HP:0000028HP:0000028Cryptorchidism0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000028HP:0000028Cryptorchidism0IGF2 CL E G H34815466OMIM:130650Beckwith-Wiedemann syndrome.9
HP:0000028HP:0000028Cryptorchidism0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive faciesHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0IGF2 CL E G H34815466ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040282 - Frequent9
HP:0000028HP:0000028Cryptorchidism0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent18
HP:0000028HP:0000028Cryptorchidism0INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral.5
HP:0000028HP:0000028Cryptorchidism0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0IRF6 CL E G H36646121ORPHA:1300Autosomal dominant popliteal pterygium syndromeHP:0040282 - Frequent99
HP:0000028HP:0000028Cryptorchidism0IRF6 CL E G H36646121OMIM:119500Popliteal pterygium syndrome.99
HP:0000028HP:0000028Cryptorchidism0IRX5 CL E G H1026514361OMIM:611174Hamamy syndrome.4
HP:0000028HP:0000028Cryptorchidism0JAG1 CL E G H1826188ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent257
HP:0000028HP:0000028Cryptorchidism0JAM3 CL E G H8370015532OMIM:613730Hemorrhagic destruction of the brain, subependymal calcification,and cataractsHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000028HP:0000028Cryptorchidism0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000028HP:0000028Cryptorchidism0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000028HP:0000028Cryptorchidism0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000028HP:0000028Cryptorchidism0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000028HP:0000028Cryptorchidism0KAT6A CL E G H799413013ORPHA:457193Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndromeHP:0040283 - Occasional34
HP:0000028HP:0000028Cryptorchidism0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0000028HP:0000028Cryptorchidism0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
HP:0000028HP:0000028Cryptorchidism0KAT6B CL E G H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000028HP:0000028Cryptorchidism0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0000028HP:0000028Cryptorchidism0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0KCNQ1 CL E G H37846294OMIM:130650Beckwith-Wiedemann syndrome.730
HP:0000028HP:0000028Cryptorchidism0KCNQ1OT1 CL E G H109846295OMIM:130650Beckwith-Wiedemann syndrome.1
HP:0000028HP:0000028Cryptorchidism0KCNQ1OT1 CL E G H109846295ORPHA:2128Isolated hemihyperplasiaHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000028HP:0000028Cryptorchidism0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000028HP:0000028Cryptorchidism0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0000028HP:0000028Cryptorchidism0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000028HP:0000028Cryptorchidism0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040281 - Very frequent81
HP:0000028HP:0000028Cryptorchidism0KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040283 - Occasional53
HP:0000028HP:0000028Cryptorchidism0KDM6A CL E G H740312637OMIM:147920Kabuki syndrome 1.53
HP:0000028HP:0000028Cryptorchidism0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000028HP:0000028Cryptorchidism0KDR CL E G H37916307ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent40
HP:0000028HP:0000028Cryptorchidism0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 64
HP:0000028HP:0000028Cryptorchidism0KIF7 CL E G H37465430497ORPHA:36Acrocallosal syndromeHP:0040283 - Occasional167
HP:0000028HP:0000028Cryptorchidism0KIF7 CL E G H37465430497OMIM:200990Acrocallosal syndrome167
HP:0000028HP:0000028Cryptorchidism0KIF7 CL E G H37465430497ORPHA:2189HydrolethalusHP:0040283 - Occasional167
HP:0000028HP:0000028Cryptorchidism0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6167
HP:0000028HP:0000028Cryptorchidism0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000028HP:0000028Cryptorchidism0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0000028HP:0000028Cryptorchidism0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000028HP:0000028Cryptorchidism0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000028HP:0000028Cryptorchidism0KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040283 - Occasional660
HP:0000028HP:0000028Cryptorchidism0KMT2D CL E G H80857133OMIM:147920Kabuki syndrome 1.660
HP:0000028HP:0000028Cryptorchidism0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0000028HP:0000028Cryptorchidism0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0000028HP:0000028Cryptorchidism0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent196
HP:0000028HP:0000028Cryptorchidism0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040282 - Frequent196
HP:0000028HP:0000028Cryptorchidism0KRAS CL E G H38456407OMIM:609942Noonan syndrome 3196
HP:0000028HP:0000028Cryptorchidism0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional136
HP:0000028HP:0000028Cryptorchidism0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1136
HP:0000028HP:0000028Cryptorchidism0LARGE1 CL E G H92156511ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent136
HP:0000028HP:0000028Cryptorchidism0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040281 - Very frequent8
HP:0000028HP:0000028Cryptorchidism0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0000028HP:0000028Cryptorchidism0LETM1 CL E G H39546556OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000028HP:0000028Cryptorchidism0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0LFNG CL E G H39556560ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0LHX4 CL E G H8988421734ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional43
HP:0000028HP:0000028Cryptorchidism0LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000028HP:0000028Cryptorchidism0LIG4 CL E G H39816601ORPHA:99812LIG4 syndromeHP:0040283 - Occasional88
HP:0000028HP:0000028Cryptorchidism0LIG4 CL E G H39816601OMIM:606593Lig4 syndrome.88
HP:0000028HP:0000028Cryptorchidism0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0LMBR1 CL E G H6432713243ORPHA:2378Laurin-Sandrow syndromeHP:0040283 - Occasional106
HP:0000028HP:0000028Cryptorchidism0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0000028HP:0000028Cryptorchidism0LMOD1 CL E G H258026647ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0000028HP:0000028Cryptorchidism0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0000028HP:0000028Cryptorchidism0LRIG2 CL E G H986020889ORPHA:2704Ochoa syndromeHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000028HP:0000028Cryptorchidism0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040282 - Frequent43
HP:0000028HP:0000028Cryptorchidism0LZTR1 CL E G H82166742OMIM:616564Noonan syndrome 1043
HP:0000028HP:0000028Cryptorchidism0LZTR1 CL E G H82166742OMIM:605275Noonan syndrome 243
HP:0000028HP:0000028Cryptorchidism0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000028HP:0000028Cryptorchidism0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000028HP:0000028Cryptorchidism0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent63
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent63
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent63
HP:0000028HP:0000028Cryptorchidism0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000028HP:0000028Cryptorchidism0MAMLD1 CL E G H100462568ORPHA:95706Non-syndromic posterior hypospadiasHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0MAMLD1 CL E G H100462568ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent134
HP:0000028HP:0000028Cryptorchidism0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1134
HP:0000028HP:0000028Cryptorchidism0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040282 - Frequent178
HP:0000028HP:0000028Cryptorchidism0MAP2K2 CL E G H56056842ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040282 - Frequent178
HP:0000028HP:0000028Cryptorchidism0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent13
HP:0000028HP:0000028Cryptorchidism0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2HP:0040283 - Occasional11
HP:0000028HP:0000028Cryptorchidism0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000028HP:0000028Cryptorchidism0MAPRE2 CL E G H109826891ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0000028HP:0000028Cryptorchidism0MASP1 CL E G H56486901ORPHA:2938433MC syndrome21
HP:0000028HP:0000028Cryptorchidism0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndromeHP:0040283 - Occasional252
HP:0000028HP:0000028Cryptorchidism0MBTPS2 CL E G H5136015455ORPHA:85284BRESEK syndromeHP:0040281 - Very frequent22
HP:0000028HP:0000028Cryptorchidism0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0000028HP:0000028Cryptorchidism0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0000028HP:0000028Cryptorchidism0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional94
HP:0000028HP:0000028Cryptorchidism0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 82
HP:0000028HP:0000028Cryptorchidism0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000028HP:0000028Cryptorchidism0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000028HP:0000028Cryptorchidism0MECP2 CL E G H42046990ORPHA:1762Proximal Xq28 duplication syndromeHP:0040281 - Very frequent950
HP:0000028HP:0000028Cryptorchidism0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040282 - Frequent228
HP:0000028HP:0000028Cryptorchidism0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked.228
HP:0000028HP:0000028Cryptorchidism0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000028HP:0000028Cryptorchidism0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000028HP:0000028Cryptorchidism0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000028HP:0000028Cryptorchidism0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0MEGF8 CL E G H19543233ORPHA:65759Carpenter syndromeHP:0040281 - Very frequent13
HP:0000028HP:0000028Cryptorchidism0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 2.13
HP:0000028HP:0000028Cryptorchidism0MESP2 CL E G H14587329659ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional45
HP:0000028HP:0000028Cryptorchidism0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0000028HP:0000028Cryptorchidism0MID1 CL E G H42817095OMIM:300000Opitz gbbb syndrome, type I.57
HP:0000028HP:0000028Cryptorchidism0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0000028HP:0000028Cryptorchidism0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional69
HP:0000028HP:0000028Cryptorchidism0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040282 - Frequent69
HP:0000028HP:0000028Cryptorchidism0MKKS CL E G H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0000028HP:0000028Cryptorchidism0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000028HP:0000028Cryptorchidism0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional127
HP:0000028HP:0000028Cryptorchidism0MKS1 CL E G H549037121ORPHA:564Meckel syndromeHP:0040282 - Frequent127
HP:0000028HP:0000028Cryptorchidism0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1.127
HP:0000028HP:0000028Cryptorchidism0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional26
HP:0000028HP:0000028Cryptorchidism0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0MRPS28 CL E G H2895714513OMIM:618958COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000028HP:0000028Cryptorchidism0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked.185
HP:0000028HP:0000028Cryptorchidism0MTM1 CL E G H45347448ORPHA:456328X-linked myotubular myopathy-abnormal genitalia syndromeHP:0040282 - Frequent185
HP:0000028HP:0000028Cryptorchidism0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional7
HP:0000028HP:0000028Cryptorchidism0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000028HP:0000028Cryptorchidism0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0000028HP:0000028Cryptorchidism0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
HP:0000028HP:0000028Cryptorchidism0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0000028HP:0000028Cryptorchidism0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional19
HP:0000028HP:0000028Cryptorchidism0MYH11 CL E G H46297569ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional418
HP:0000028HP:0000028Cryptorchidism0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0000028HP:0000028Cryptorchidism0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040283 - Occasional166
HP:0000028HP:0000028Cryptorchidism0MYH3 CL E G H46217573ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent166
HP:0000028HP:0000028Cryptorchidism0MYL11 CL E G H2989529824OMIM:619110ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0000028HP:0000028Cryptorchidism0MYLK CL E G H46387590ORPHA:2241Megacystis-microcolon-intestinal hypoperistalsis syndromeHP:0040283 - Occasional326
HP:0000028HP:0000028Cryptorchidism0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0000028HP:0000028Cryptorchidism0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome.2
HP:0000028HP:0000028Cryptorchidism0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz typeHP:0040282 - Frequent23
HP:0000028HP:0000028Cryptorchidism0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1.23
HP:0000028HP:0000028Cryptorchidism0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0000028HP:0000028Cryptorchidism0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000028HP:0000028Cryptorchidism0NALCN CL E G H25923219082ORPHA:2053Freeman-Sheldon syndromeHP:0040282 - Frequent48
HP:0000028HP:0000028Cryptorchidism0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000028HP:0000028Cryptorchidism0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0NDNF CL E G H7962526256OMIM:618841HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA; HH25
HP:0000028HP:0000028Cryptorchidism0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000028HP:0000028Cryptorchidism0NDUFB7 CL E G H47137702OMIM:620135
HP:0000028HP:0000028Cryptorchidism0NEDD4L CL E G H233277728OMIM:617201Periventricular nodular heterotopia 7.30
HP:0000028HP:0000028Cryptorchidism0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0NF1 CL E G H47637765ORPHA:638Neurofibromatosis-Noonan syndromeHP:0040282 - Frequent1952
HP:0000028HP:0000028Cryptorchidism0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0000028HP:0000028Cryptorchidism0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development1
HP:0000028HP:0000028Cryptorchidism0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0000028HP:0000028Cryptorchidism0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000028HP:0000028Cryptorchidism0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000028HP:0000028Cryptorchidism0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1.494
HP:0000028HP:0000028Cryptorchidism0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000028HP:0000028Cryptorchidism0NKX2-5 CL E G H14822488ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent90
HP:0000028HP:0000028Cryptorchidism0NKX2-6 CL E G H13781432940ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent3
HP:0000028HP:0000028Cryptorchidism0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0NNT CL E G H235307863OMIM:614736Glucocorticoid deficiency 4 with or without mineralocorticoid deficiencyHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000028HP:0000028Cryptorchidism0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000028HP:0000028Cryptorchidism0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000028HP:0000028Cryptorchidism0NOTCH3 CL E G H48547883ORPHA:2789Lateral meningocele syndromeHP:0040283 - Occasional144
HP:0000028HP:0000028Cryptorchidism0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0000028HP:0000028Cryptorchidism0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000028HP:0000028Cryptorchidism0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional85
HP:0000028HP:0000028Cryptorchidism0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent48
HP:0000028HP:0000028Cryptorchidism0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000028HP:0000028Cryptorchidism0NR5A1 CL E G H25167983ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000028HP:0000028Cryptorchidism0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent38
HP:0000028HP:0000028Cryptorchidism0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040282 - Frequent102
HP:0000028HP:0000028Cryptorchidism0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0000028HP:0000028Cryptorchidism0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000028HP:0000028Cryptorchidism0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000028HP:0000028Cryptorchidism0NSD1 CL E G H6432414234ORPHA:3447Weaver syndromeHP:0040283 - Occasional544
HP:0000028HP:0000028Cryptorchidism0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
HP:0000028HP:0000028Cryptorchidism0NSD2 CL E G H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000028HP:0000028Cryptorchidism0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000028HP:0000028Cryptorchidism0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000028HP:0000028Cryptorchidism0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0NUP88 CL E G H49278067OMIM:618393Fetal akinesia deformation sequence 4.
HP:0000028HP:0000028Cryptorchidism0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent121
HP:0000028HP:0000028Cryptorchidism0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent121
HP:0000028HP:0000028Cryptorchidism0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent121
HP:0000028HP:0000028Cryptorchidism0OCRL CL E G H49528108OMIM:309000Lowe syndrome.88
HP:0000028HP:0000028Cryptorchidism0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000028HP:0000028Cryptorchidism0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000028HP:0000028Cryptorchidism0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000028HP:0000028Cryptorchidism0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6201
HP:0000028HP:0000028Cryptorchidism0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 106.4
HP:0000028HP:0000028Cryptorchidism0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance.55
HP:0000028HP:0000028Cryptorchidism0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0000028HP:0000028Cryptorchidism0ORC1 CL E G H49988487OMIM:224690Meier-Gorlin syndrome 1.53
HP:0000028HP:0000028Cryptorchidism0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0000028HP:0000028Cryptorchidism0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0000028HP:0000028Cryptorchidism0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3.39
HP:0000028HP:0000028Cryptorchidism0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000028HP:0000028Cryptorchidism0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000028HP:0000028Cryptorchidism0OTX2 CL E G H50158522OMIM:610125Microphthalmia, syndromic 5HP:0040283 - Occasional41
HP:0000028HP:0000028Cryptorchidism0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent41
HP:0000028HP:0000028Cryptorchidism0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040282 - Frequent24
HP:0000028HP:0000028Cryptorchidism0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0000028HP:0000028Cryptorchidism0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000028HP:0000028Cryptorchidism0PAICS CL E G H106068587OMIM:619859
HP:0000028HP:0000028Cryptorchidism0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000028HP:0000028Cryptorchidism0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000028HP:0000028Cryptorchidism0PAX6 CL E G H50808620ORPHA:893WAGR syndromeHP:0040282 - Frequent194
HP:0000028HP:0000028Cryptorchidism0PAX6 CL E G H50808620OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent194
HP:0000028HP:0000028Cryptorchidism0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0000028HP:0000028Cryptorchidism0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0000028HP:0000028Cryptorchidism0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000028HP:0000028Cryptorchidism0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040282 - Frequent113
HP:0000028HP:0000028Cryptorchidism0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000028HP:0000028Cryptorchidism0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0000028HP:0000028Cryptorchidism0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000028HP:0000028Cryptorchidism0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 61
HP:0000028HP:0000028Cryptorchidism0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0000028HP:0000028Cryptorchidism0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040282 - Frequent169
HP:0000028HP:0000028Cryptorchidism0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040282 - Frequent75
HP:0000028HP:0000028Cryptorchidism0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040282 - Frequent4
HP:0000028HP:0000028Cryptorchidism0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040282 - Frequent65
HP:0000028HP:0000028Cryptorchidism0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040282 - Frequent66
HP:0000028HP:0000028Cryptorchidism0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040282 - Frequent46
HP:0000028HP:0000028Cryptorchidism0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040282 - Frequent59
HP:0000028HP:0000028Cryptorchidism0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040282 - Frequent62
HP:0000028HP:0000028Cryptorchidism0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0000028HP:0000028Cryptorchidism0PEX2 CL