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 H2912321316ORPHA:2332KBG syndromeHP:0040282 - Frequent102
HP:0000028HP:0000028Cryptorchidism0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome.102
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 H2354518481OMIM:278250Wrinkly skin syndrome.140
HP:0000028HP:0000028Cryptorchidism0ATP6V0A2 CL E G H2354518481ORPHA:2834Wrinkly skin syndromeHP:0040281 - Very frequent140
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 H5563620626OMIM:214800Charge syndrome.515
HP:0000028HP:0000028Cryptorchidism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
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 H108152309OMIM:194190Wolf-Hirschhorn syndrome1
HP:0000028HP:0000028Cryptorchidism0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent1
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 H14872494OMIM:194190Wolf-Hirschhorn syndrome2
HP:0000028HP:0000028Cryptorchidism0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent2
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 H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000028HP:0000028Cryptorchidism0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
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 H106823133OMIM:300960Mend syndrome.51
HP:0000028HP:0000028Cryptorchidism0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
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 H21463527ORPHA:3447Weaver syndromeHP:0040283 - Occasional81
HP:0000028HP:0000028Cryptorchidism0EZH2 CL E G H21463527OMIM:277590Weaver syndrome.81
HP:0000028HP:0000028Cryptorchidism0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6
HP:0000028HP:0000028Cryptorchidism0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000028HP:0000028Cryptorchidism0FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
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 H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000028HP:0000028Cryptorchidism0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040282 - Frequent62
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 H989616873OMIM:216340Yunis-Varon syndrome.111
HP:0000028HP:0000028Cryptorchidism0FIG4 CL E G H989616873ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional111
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 H27374319OMIM:146510Pallister-Hall syndrome.270
HP:0000028HP:0000028Cryptorchidism0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040283 - Occasional270
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 H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040283 - Occasional345
HP:0000028HP:0000028Cryptorchidism0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
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 H2352217582OMIM:606170Genitopatellar syndrome.141
HP:0000028HP:0000028Cryptorchidism0KAT6B CL E G H2352217582ORPHA:85201Genitopatellar syndromeHP:0040281 - Very frequent141
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 H81957108OMIM:236700Mckusick-Kaufman syndrome.69
HP:0000028HP:0000028Cryptorchidism0MKKS CL E G H81957108ORPHA:2473McKusick-Kaufman syndromeHP:0040282 - Frequent69
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 H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent72
HP:0000028HP:0000028Cryptorchidism0MUSK CL E G H45937525OMIM:208150Fetal akinesia deformation sequence.72
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 H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000028HP:0000028Cryptorchidism0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
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 H746812766OMIM:194190Wolf-Hirschhorn syndrome118
HP:0000028HP:0000028Cryptorchidism0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent118
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 E G H58289717ORPHA:912Zellweger syndromeHP:0040282 - Frequent82
HP:0000028HP:0000028Cryptorchidism0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040282 - Frequent106
HP:0000028HP:0000028Cryptorchidism0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040282 - Frequent47
HP:0000028HP:0000028Cryptorchidism0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0000028HP:0000028Cryptorchidism0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040282 - Frequent99
HP:0000028HP:0000028Cryptorchidism0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040282 - Frequent98
HP:0000028HP:0000028Cryptorchidism0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0000028HP:0000028Cryptorchidism0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0000028HP:0000028Cryptorchidism0PHF6 CL E G H8429518145OMIM:301900Borjeson-Forssman-Lehmann syndrome.29
HP:0000028HP:0000028Cryptorchidism0PHF8 CL E G H2313320672ORPHA:85287X-linked intellectual disability, Siderius typeHP:0040282 - Frequent23
HP:0000028HP:0000028Cryptorchidism0PHGDH CL E G H262278923OMIM:256520Neu-Laxova syndrome.37
HP:0000028HP:0000028Cryptorchidism0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000028HP:0000028Cryptorchidism0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000028HP:0000028Cryptorchidism0PIEZO2 CL E G H6389526270OMIM:114300Arthrogryposis, distal, type 3.77
HP:0000028HP:0000028Cryptorchidism0PIEZO2 CL E G H6389526270ORPHA:376Gordon syndromeHP:0040283 - Occasional77
HP:0000028HP:0000028Cryptorchidism0PIEZO2 CL E G H6389526270OMIM:248700Marden-Walker syndrome.77
HP:0000028HP:0000028Cryptorchidism0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040282 - Frequent7
HP:0000028HP:0000028Cryptorchidism0PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0000028HP:0000028Cryptorchidism0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000028HP:0000028Cryptorchidism0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0000028HP:0000028Cryptorchidism0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0PLAGL1 CL E G H53259046ORPHA:96191Paternal uniparental disomy of chromosome 6HP:0040281 - Very frequent
HP:0000028HP:0000028Cryptorchidism0PLVAP CL E G H8348313635OMIM:618183Diarrhea 10, protein-losing Enteropathy type.
HP:0000028HP:0000028Cryptorchidism0PNPLA6 CL E G H1090816268ORPHA:2377Laurence-Moon syndromeHP:0040282 - Frequent103
HP:0000028HP:0000028Cryptorchidism0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0000028HP:0000028Cryptorchidism0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000028HP:0000028Cryptorchidism0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000028HP:0000028Cryptorchidism0POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0000028HP:0000028Cryptorchidism0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0000028HP:0000028Cryptorchidism0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional38
HP:0000028HP:0000028Cryptorchidism0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional31
HP:0000028HP:0000028Cryptorchidism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000028HP:0000028Cryptorchidism0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0000028HP:0000028Cryptorchidism0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000028HP:0000028Cryptorchidism0POMGNT1 CL E G H5562419139ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent180
HP:0000028HP:0000028Cryptorchidism0POMGNT2 CL E G H8489225902ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent33
HP:0000028HP:0000028Cryptorchidism0POMK CL E G H8419726267ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent18
HP:0000028HP:0000028Cryptorchidism0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional213
HP:0000028HP:0000028Cryptorchidism0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1213
HP:0000028HP:0000028Cryptorchidism0POMT1 CL E G H105859202ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent213
HP:0000028HP:0000028Cryptorchidism0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040283 - Occasional221
HP:0000028HP:0000028Cryptorchidism0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1221
HP:0000028HP:0000028Cryptorchidism0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0000028HP:0000028Cryptorchidism0POMT2 CL E G H2995419743ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent221
HP:0000028HP:0000028Cryptorchidism0POR CL E G H54479208OMIM:201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis.76
HP:0000028HP:0000028Cryptorchidism0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0000028HP:0000028Cryptorchidism0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0000028HP:0000028Cryptorchidism0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000028HP:0000028Cryptorchidism0PPFIBP1 CL E G H84969249OMIM:620024
HP:0000028HP:0000028Cryptorchidism0PPP1CB CL E G H55009282ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0PPP1CB CL E G H55009282OMIM:617506Noonan syndrome-like disorder with loose anagen hair 29
HP:0000028HP:0000028Cryptorchidism0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000028HP:0000028Cryptorchidism0PPP1R15B CL E G H8491914951OMIM:616817Microcephaly, short stature, and impaired glucose metabolism 2HP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000028HP:0000028Cryptorchidism0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000028HP:0000028Cryptorchidism0PRIM1 CL E G H55579369OMIM:620005
HP:0000028HP:0000028Cryptorchidism0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040282 - Frequent134
HP:0000028HP:0000028Cryptorchidism0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0000028HP:0000028Cryptorchidism0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0000028HP:0000028Cryptorchidism0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0PRMT7 CL E G H5449625557ORPHA:464288Short stature-brachydactyly-obesity-global developmental delay syndromeHP:0040282 - Frequent6
HP:0000028HP:0000028Cryptorchidism0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0000028HP:0000028Cryptorchidism0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040282 - Frequent9
HP:0000028HP:0000028Cryptorchidism0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000028HP:0000028Cryptorchidism0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000028HP:0000028Cryptorchidism0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040282 - Frequent34
HP:0000028HP:0000028Cryptorchidism0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000028HP:0000028Cryptorchidism0PROKR2 CL E G H12867415836ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional34
HP:0000028HP:0000028Cryptorchidism0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent34
HP:0000028HP:0000028Cryptorchidism0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000028HP:0000028Cryptorchidism0PSMC1 CL E G H57009547OMIM:6200711
HP:0000028HP:0000028Cryptorchidism0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000028HP:0000028Cryptorchidism0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000028HP:0000028Cryptorchidism0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000028HP:0000028Cryptorchidism0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040282 - Frequent6
HP:0000028HP:0000028Cryptorchidism0PTDSS1 CL E G H97919587OMIM:151050Lenz-Majewski hyperostotic dwarfism.6
HP:0000028HP:0000028Cryptorchidism0PTPN11 CL E G H57819644OMIM:151100Leopard syndrome 1.291
HP:0000028HP:0000028Cryptorchidism0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040282 - Frequent291
HP:0000028HP:0000028Cryptorchidism0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1291
HP:0000028HP:0000028Cryptorchidism0PTPN11 CL E G H57819644ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent291
HP:0000028HP:0000028Cryptorchidism0PTPRF CL E G H57929670OMIM:616001Breasts and/or nipples, aplasia or hypoplasia of, 21
HP:0000028HP:0000028Cryptorchidism0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB.53
HP:0000028HP:0000028Cryptorchidism0RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040281 - Very frequent85
HP:0000028HP:0000028Cryptorchidism0RAB23 CL E G H5171514263ORPHA:65759Carpenter syndromeHP:0040281 - Very frequent31
HP:0000028HP:0000028Cryptorchidism0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0000028HP:0000028Cryptorchidism0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent90
HP:0000028HP:0000028Cryptorchidism0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040281 - Very frequent90
HP:0000028HP:0000028Cryptorchidism0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000028HP:0000028Cryptorchidism0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040282 - Frequent135
HP:0000028HP:0000028Cryptorchidism0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000028HP:0000028Cryptorchidism0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040281 - Very frequent135
HP:0000028HP:0000028Cryptorchidism0RAB3GAP2 CL E G H2578217168OMIM:614225Warburg micro syndrome 2.135
HP:0000028HP:0000028Cryptorchidism0RAC1 CL E G H58799801ORPHA:500159Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndromHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0RAC3 CL E G H58819803OMIM:618577NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF1
HP:0000028HP:0000028Cryptorchidism0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000028HP:0000028Cryptorchidism0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000028HP:0000028Cryptorchidism0RAD51C CL E G H58899820OMIM:613390Fanconi anemia, complementation group O.391
HP:0000028HP:0000028Cryptorchidism0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040282 - Frequent212
HP:0000028HP:0000028Cryptorchidism0RAF1 CL E G H58949829OMIM:611553Noonan syndrome 5212
HP:0000028HP:0000028Cryptorchidism0RAF1 CL E G H58949829ORPHA:500Noonan syndrome with multiple lentiginesHP:0040282 - Frequent212
HP:0000028HP:0000028Cryptorchidism0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent73
HP:0000028HP:0000028Cryptorchidism0RAPSN CL E G H59139863OMIM:618388FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS273
HP:0000028HP:0000028Cryptorchidism0RARB CL E G H59159865ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0RARB CL E G H59159865OMIM:615524Microphthalmia, syndromic 12HP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040282 - Frequent3
HP:0000028HP:0000028Cryptorchidism0RBM10 CL E G H82419896ORPHA:2886TARP syndromeHP:0040283 - Occasional16
HP:0000028HP:0000028Cryptorchidism0RBMY1A1 CL E G H59409912ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0000028HP:0000028Cryptorchidism0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000028HP:0000028Cryptorchidism0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000028HP:0000028Cryptorchidism0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000028HP:0000028Cryptorchidism0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000028HP:0000028Cryptorchidism0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000028HP:0000028Cryptorchidism0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040283 - Occasional43
HP:0000028HP:0000028Cryptorchidism0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0000028HP:0000028Cryptorchidism0RIPPLY2 CL E G H13470121390ORPHA:2311Autosomal recessive spondylocostal dysostosisHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040282 - Frequent39
HP:0000028HP:0000028Cryptorchidism0RIT1 CL E G H601610023OMIM:615355NOONAN SYNDROME 8; NS839
HP:0000028HP:0000028Cryptorchidism0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome.7
HP:0000028HP:0000028Cryptorchidism0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000028HP:0000028Cryptorchidism0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndrome11
HP:0000028HP:0000028Cryptorchidism0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040282 - Frequent15
HP:0000028HP:0000028Cryptorchidism0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0000028HP:0000028Cryptorchidism0ROBO1 CL E G H609110249ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional7
HP:0000028HP:0000028Cryptorchidism0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040282 - Frequent120
HP:0000028HP:0000028Cryptorchidism0ROR2 CL E G H492010257OMIM:268310Robinow syndrome, autosomal recessive.120
HP:0000028HP:0000028Cryptorchidism0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000028HP:0000028Cryptorchidism0RPGRIP1 CL E G H5709613436ORPHA:564Meckel syndromeHP:0040282 - Frequent109
HP:0000028HP:0000028Cryptorchidism0RPGRIP1L CL E G H2332229168ORPHA:564Meckel syndromeHP:0040282 - Frequent167
HP:0000028HP:0000028Cryptorchidism0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000028HP:0000028Cryptorchidism0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000028HP:0000028Cryptorchidism0RPL10 CL E G H613410298ORPHA:435938X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndromeHP:0040280 - Obligate10
HP:0000028HP:0000028Cryptorchidism0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040282 - Frequent1
HP:0000028HP:0000028Cryptorchidism0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RSPO2 CL E G H34041928583ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RTL1 CL E G H38801514665ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0000028HP:0000028Cryptorchidism0RXYLT1 CL E G H1032913530ORPHA:899Walker-Warburg syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040283 - Occasional1200
HP:0000028HP:0000028Cryptorchidism0RYR1 CL E G H626110483ORPHA:98905Congenital multicore myopathy with external ophthalmoplegiaHP:0040283 - Occasional1200
HP:0000028HP:0000028Cryptorchidism0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000028HP:0000028Cryptorchidism0SALL1 CL E G H629910524ORPHA:857Townes-Brocks syndromeHP:0040282 - Frequent124
HP:0000028HP:0000028Cryptorchidism0SALL1 CL E G H629910524OMIM:107480Townes-Brocks syndrome 1.124
HP:0000028HP:0000028Cryptorchidism0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000028HP:0000028Cryptorchidism0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040283 - Occasional34
HP:0000028HP:0000028Cryptorchidism0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0000028HP:0000028Cryptorchidism0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional61
HP:0000028HP:0000028Cryptorchidism0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasia.2
HP:0000028HP:0000028Cryptorchidism0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia.14
HP:0000028HP:0000028Cryptorchidism0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040282 - Frequent14
HP:0000028HP:0000028Cryptorchidism0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000028HP:0000028Cryptorchidism0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0000028HP:0000028Cryptorchidism0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000028HP:0000028Cryptorchidism0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000028HP:0000028Cryptorchidism0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000028HP:0000028Cryptorchidism0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000028HP:0000028Cryptorchidism0SHOC2 CL E G H803615454ORPHA:2701Noonan syndrome-like disorder with loose anagen hairHP:0040283 - Occasional74
HP:0000028HP:0000028Cryptorchidism0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000028HP:0000028Cryptorchidism0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000028HP:0000028Cryptorchidism0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040281 - Very frequent40
HP:0000028HP:0000028Cryptorchidism0SIN3A CL E G H2594219353ORPHA:9406515q24 microdeletion syndromeHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000028HP:0000028Cryptorchidism0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000028HP:0000028Cryptorchidism0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000028HP:0000028Cryptorchidism0SKI CL E G H649710896OMIM:182212Shprintzen-Goldberg craniosynostosis syndrome150
HP:0000028HP:0000028Cryptorchidism0SKI CL E G H649710896ORPHA:2462Shprintzen-Goldberg syndromeHP:0040283 - Occasional150
HP:0000028HP:0000028Cryptorchidism0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040283 - Occasional57
HP:0000028HP:0000028Cryptorchidism0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndromeHP:0040283 - Occasional55
HP:0000028HP:0000028Cryptorchidism0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000028HP:0000028Cryptorchidism0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0000028HP:0000028Cryptorchidism0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040282 - Frequent9
HP:0000028HP:0000028Cryptorchidism0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000028HP:0000028Cryptorchidism0SLX4 CL E G H8446423845OMIM:613951Fanconi anemia, complementation group PHP:0040283 - Occasional274
HP:0000028HP:0000028Cryptorchidism0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000028HP:0000028Cryptorchidism0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0000028HP:0000028Cryptorchidism0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000028HP:0000028Cryptorchidism0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0000028HP:0000028Cryptorchidism0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0000028HP:0000028Cryptorchidism0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0000028HP:0000028Cryptorchidism0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent617
HP:0000028HP:0000028Cryptorchidism0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000028HP:0000028Cryptorchidism0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent87
HP:0000028HP:0000028Cryptorchidism0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent1
HP:0000028HP:0000028Cryptorchidism0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent47
HP:0000028HP:0000028Cryptorchidism0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000028HP:0000028Cryptorchidism0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000028HP:0000028Cryptorchidism0SMC3 CL E G H91262468OMIM:610759Cornelia de Lange syndrome 391
HP:0000028HP:0000028Cryptorchidism0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000028HP:0000028Cryptorchidism0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000028HP:0000028Cryptorchidism0SMOC1 CL E G H6409320318ORPHA:1106Microphthalmia with limb anomaliesHP:0040283 - Occasional15
HP:0000028HP:0000028Cryptorchidism0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000028HP:0000028Cryptorchidism0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040283 - Occasional19
HP:0000028HP:0000028Cryptorchidism0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000028HP:0000028Cryptorchidism0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040281 - Very frequent37
HP:0000028HP:0000028Cryptorchidism0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040281 - Very frequent37
HP:0000028HP:0000028Cryptorchidism0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040281 - Very frequent37
HP:0000028HP:0000028Cryptorchidism0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040282 - Frequent315
HP:0000028HP:0000028Cryptorchidism0SOS1 CL E G H665411187OMIM:610733Noonan syndrome 4315
HP:0000028HP:0000028Cryptorchidism0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040282 - Frequent30
HP:0000028HP:0000028Cryptorchidism0SOS2 CL E G H665511188OMIM:616559NOONAN SYNDROME 9; NS930
HP:0000028HP:0000028Cryptorchidism0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040282 - Frequent61
HP:0000028HP:0000028Cryptorchidism0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0000028HP:0000028Cryptorchidism0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0000028HP:0000028Cryptorchidism0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent14
HP:0000028HP:0000028Cryptorchidism0SOX2 CL E G H665711195ORPHA:77298Anophthalmia/microphthalmia-esophageal atresia syndromeHP:0040282 - Frequent33
HP:0000028HP:0000028Cryptorchidism0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000028HP:0000028Cryptorchidism0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent33
HP:0000028HP:0000028Cryptorchidism0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040282 - Frequent24
HP:0000028HP:0000028Cryptorchidism0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0SOX9 CL E G H666211204ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000028HP:0000028Cryptorchidism0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent109
HP:0000028HP:0000028Cryptorchidism0SPECC1L CL E G H2338429022ORPHA:1519SPECC1L-related hypertelorism syndromeHP:0040282 - Frequent6
HP:0000028HP:0000028Cryptorchidism0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040282 - Frequent
HP:0000028HP:0000028Cryptorchidism0SPRED2 CL E G H20073417722OMIM:619745NOONAN SYNDROME 14; NS14
HP:0000028HP:0000028Cryptorchidism0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0000028HP:0000028Cryptorchidism0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040282 - Frequent5
HP:0000028HP:0000028Cryptorchidism0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000028HP:0000028Cryptorchidism0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000028HP:0000028Cryptorchidism0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000028HP:0000028Cryptorchidism0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000028HP:0000028Cryptorchidism0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000028HP:0000028Cryptorchidism0SRD5A2 CL E G H671611285ORPHA:75346,XY disorder of sex development due to 5-alpha-reductase 2 deficiencyHP:0040281 - Very frequent86
HP:0000028HP:0000028Cryptorchidism0SRD5A2 CL E G H671611285OMIM:264600Pseudovaginal perineoscrotal hypospadias.86
HP:0000028HP:0000028Cryptorchidism0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000028HP:0000028Cryptorchidism0SRY CL E G H673611311ORPHA:213846,XX ovotesticular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000028HP:0000028Cryptorchidism0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent23
HP:0000028HP:0000028Cryptorchidism0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0000028HP:0000028Cryptorchidism0STAC3 CL E G H24632928423ORPHA:168572Native American myopathyHP:0040282 - Frequent14
HP:0000028HP:0000028Cryptorchidism0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47.9
HP:0000028HP:0000028Cryptorchidism0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040282 - Frequent9
HP:0000028HP:0000028Cryptorchidism0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional45
HP:0000028HP:0000028Cryptorchidism0STRA6 CL E G H6422030650ORPHA:2470Matthew-Wood syndromeHP:0040283 - Occasional71
HP:0000028HP:0000028Cryptorchidism0STRA6 CL E G H6422030650OMIM:601186Microphthalmia, syndromic 9.71
HP:0000028HP:0000028Cryptorchidism0STS CL E G H41211425OMIM:308100Ichthyosis, X-linked.19
HP:0000028HP:0000028Cryptorchidism0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000028HP:0000028Cryptorchidism0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000028HP:0000028Cryptorchidism0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040282 - Frequent21
HP:0000028HP:0000028Cryptorchidism0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0000028HP:0000028Cryptorchidism0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040282 - Frequent18
HP:0000028HP:0000028Cryptorchidism0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0000028HP:0000028Cryptorchidism0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000028HP:0000028Cryptorchidism0SUZ12 CL E G H2351217101OMIM:618786IMAGAWA-MATSUMOTO SYNDROME; IMMAS1
HP:0000028HP:0000028Cryptorchidism0SUZ12 CL E G H2351217101ORPHA:3447Weaver syndromeHP:0040283 - Occasional1
HP:0000028HP:0000028Cryptorchidism0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0000028HP:0000028Cryptorchidism0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000028HP:0000028Cryptorchidism0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000028HP:0000028Cryptorchidism0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia.34
HP:0000028HP:0000028Cryptorchidism0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040282 - Frequent34
HP:0000028HP:0000028Cryptorchidism0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000028HP:0000028Cryptorchidism0TAF6 CL E G H687811540OMIM:617126Alazami-Yuan syndrome.5
HP:0000028HP:0000028Cryptorchidism0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000028HP:0000028Cryptorchidism0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040281 - Very frequent15
HP:0000028HP:0000028Cryptorchidism0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0000028HP:0000028Cryptorchidism0TBCE CL E G H690511582OMIM:241410Hypoparathyroidism-Retardation-Dysmorphism syndrome.52
HP:0000028HP:0000028Cryptorchidism0TBCE CL E G H690511582ORPHA:2323Sanjad-Sakati syndromeHP:0040283 - Occasional52
HP:0000028HP:0000028Cryptorchidism0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000028HP:0000028Cryptorchidism0TBL1XR1 CL E G H7971829529ORPHA:487825Pierpont syndromeHP:0040283 - Occasional22
HP:0000028HP:0000028Cryptorchidism0TBL1XR1 CL E G H7971829529OMIM:602342Pierpont syndrome22
HP:0000028HP:0000028Cryptorchidism0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000028HP:0000028Cryptorchidism0TBX1 CL E G H689911592ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent32
HP:0000028HP:0000028Cryptorchidism0TBX1 CL E G H689911592OMIM:192430Velocardiofacial syndrome32
HP:0000028HP:0000028Cryptorchidism0TBX22 CL E G H5094511600ORPHA:921Abruzzo-Erickson syndromeHP:0040283 - Occasional28
HP:0000028HP:0000028Cryptorchidism0TBX3 CL E G H692611602ORPHA:3138Ulnar-mammary syndromeHP:0040282 - Frequent100
HP:0000028HP:0000028Cryptorchidism0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000028HP:0000028Cryptorchidism0TCF4 CL E G H692511634OMIM:610954Pitt-Hopkins syndrome.241
HP:0000028HP:0000028Cryptorchidism0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0000028HP:0000028Cryptorchidism0TCOF1 CL E G H694911654OMIM:154500Treacher collins-franceschetti syndrome.140
HP:0000028HP:0000028Cryptorchidism0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040283 - Occasional140
HP:0000028HP:0000028Cryptorchidism0TCTN1 CL E G H7960026113ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000028HP:0000028Cryptorchidism0TCTN2 CL E G H7986725774ORPHA:564Meckel syndromeHP:0040282 - Frequent76
HP:0000028HP:0000028Cryptorchidism0TCTN3 CL E G H2612324519ORPHA:564Meckel syndromeHP:0040282 - Frequent31
HP:0000028HP:0000028Cryptorchidism0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 631
HP:0000028HP:0000028Cryptorchidism0TFAP2A CL E G H702011742OMIM:113620Branchiooculofacial syndrome.12
HP:0000028HP:0000028Cryptorchidism0TGDS CL E G H2348320324OMIM:616145Catel-Manzke syndrome.6
HP:0000028HP:0000028Cryptorchidism0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0000028HP:0000028Cryptorchidism0TIAM1 CL E G H707411805OMIM:6199082
HP:0000028HP:0000028Cryptorchidism0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0000028HP:0000028Cryptorchidism0TMEM107 CL E G H8431428128ORPHA:564Meckel syndromeHP:0040282 - Frequent4
HP:0000028HP:0000028Cryptorchidism0TMEM216 CL E G H5125925018ORPHA:564Meckel syndromeHP:0040282 - Frequent45
HP:0000028HP:0000028Cryptorchidism0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 645
HP:0000028HP:0000028Cryptorchidism0TMEM231 CL E G H7958337234ORPHA:564Meckel syndromeHP:0040282 - Frequent33
HP:0000028HP:0000028Cryptorchidism0TMEM237 CL E G H6506214432ORPHA:564Meckel syndromeHP:0040282 - Frequent82
HP:0000028HP:0000028Cryptorchidism0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0TMEM67 CL E G H9114728396ORPHA:564Meckel syndromeHP:0040282 - Frequent166
HP:0000028HP:0000028Cryptorchidism0TMEM70 CL E G H5496826050OMIM:614052Mitochondrial complex V (atp synthase) deficiency, nuclear type 2.63
HP:0000028HP:0000028Cryptorchidism0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0000028HP:0000028Cryptorchidism0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0000028HP:0000028Cryptorchidism0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000028HP:0000028Cryptorchidism0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0000028HP:0000028Cryptorchidism0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000028HP:0000028Cryptorchidism0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000028HP:0000028Cryptorchidism0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 661
HP:0000028HP:0000028Cryptorchidism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000028HP:0000028Cryptorchidism0TPM2 CL E G H716912011OMIM:108120Arthrogryposis, distal, type 1A.54
HP:0000028HP:0000028Cryptorchidism0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional108
HP:0000028HP:0000028Cryptorchidism0TRIP4 CL E G H932512310ORPHA:486815Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndromeHP:0040283 - Occasional4
HP:0000028HP:0000028Cryptorchidism0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000028HP:0000028Cryptorchidism0TSPY1 CL E G H725812381ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0TSPYL1 CL E G H725912382OMIM:608800Sudden infant death with dysgenesis of the testes syndrome.1
HP:0000028HP:0000028Cryptorchidism0TSPYL1 CL E G H725912382ORPHA:168593Sudden infant death-dysgenesis of the testes syndromeHP:0040281 - Very frequent1
HP:0000028HP:0000028Cryptorchidism0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000028HP:0000028Cryptorchidism0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional41
HP:0000028HP:0000028Cryptorchidism0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040282 - Frequent106
HP:0000028HP:0000028Cryptorchidism0TUBB CL E G H20306820778ORPHA:2505Multiple benign circumferential skin creases on limbsHP:0040283 - Occasional14
HP:0000028HP:0000028Cryptorchidism0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0000028HP:0000028Cryptorchidism0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome18
HP:0000028HP:0000028Cryptorchidism0TWIST2 CL E G H11758120670OMIM:209885Barber-Say syndrome7
HP:0000028HP:0000028Cryptorchidism0TXNDC15 CL E G H7977020652ORPHA:564Meckel syndromeHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040283 - Occasional85
HP:0000028HP:0000028Cryptorchidism0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040283 - Occasional35
HP:0000028HP:0000028Cryptorchidism0UBA1 CL E G H731712469OMIM:301830Spinal muscular atrophy, X-linked 2.35
HP:0000028HP:0000028Cryptorchidism0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040283 - Occasional7
HP:0000028HP:0000028Cryptorchidism0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25
HP:0000028HP:0000028Cryptorchidism0UBR7 CL E G H5514820344OMIM:619189LI-CAMPEAU SYNDROME; LICAS1
HP:0000028HP:0000028Cryptorchidism0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0UQCC2 CL E G H8430021237OMIM:615824Mitochondrial complex III deficiency, nuclear type 7.7
HP:0000028HP:0000028Cryptorchidism0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0000028HP:0000028Cryptorchidism0USP9Y CL E G H828712633ORPHA:1646Partial chromosome Y deletionHP:0040283 - Occasional2
HP:0000028HP:0000028Cryptorchidism0VAC14 CL E G H5569725507ORPHA:3472Yunis-Varon syndromeHP:0040283 - Occasional6
HP:0000028HP:0000028Cryptorchidism0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent2
HP:0000028HP:0000028Cryptorchidism0VANGL1 CL E G H8183915512ORPHA:3027Caudal regression sequenceHP:0040283 - Occasional111
HP:0000028HP:0000028Cryptorchidism0VPS13B CL E G H1576802183ORPHA:193Cohen syndromeHP:0040283 - Occasional546
HP:0000028HP:0000028Cryptorchidism0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000028HP:0000028Cryptorchidism0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000028HP:0000028Cryptorchidism0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000028HP:0000028Cryptorchidism0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040283 - Occasional60
HP:0000028HP:0000028Cryptorchidism0WDPCP CL E G H5105728027ORPHA:1338Heart defect-tongue hamartoma-polysyndactyly syndromeHP:0040282 - Frequent60
HP:0000028HP:0000028Cryptorchidism0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmiaHP:0040283 - Occasional10
HP:0000028HP:0000028Cryptorchidism0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0000028HP:0000028Cryptorchidism0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040282 - Frequent10
HP:0000028HP:0000028Cryptorchidism0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000028HP:0000028Cryptorchidism0WDR11 CL E G H5571713831ORPHA:95496Pituitary stalk interruption syndromeHP:0040283 - Occasional10
HP:0000028HP:0000028Cryptorchidism0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040282 - Frequent136
HP:0000028HP:0000028Cryptorchidism0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000028HP:0000028Cryptorchidism0WDR62 CL E G H28440324502OMIM:604317Microcephaly 2, primary, autosomal recessive, with or without cortical malformations224
HP:0000028HP:0000028Cryptorchidism0WNT3 CL E G H747312782ORPHA:3301Tetraamelia-multiple malformations syndromeHP:0040282 - Frequent12
HP:0000028HP:0000028Cryptorchidism0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0000028HP:0000028Cryptorchidism0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 1.98
HP:0000028HP:0000028Cryptorchidism0WNT7A CL E G H747612786ORPHA:2879Phocomelia, Schinzel typeHP:0040283 - Occasional13
HP:0000028HP:0000028Cryptorchidism0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0000028HP:0000028Cryptorchidism0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent177
HP:0000028HP:0000028Cryptorchidism0WT1 CL E G H749012796ORPHA:3097Meacham syndromeHP:0040282 - Frequent177
HP:0000028HP:0000028Cryptorchidism0WT1 CL E G H749012796ORPHA:893WAGR syndromeHP:0040282 - Frequent177
HP:0000028HP:0000028Cryptorchidism0WT1 CL E G H749012796OMIM:194072Wilms tumor, aniridia, genitourinary anomalies, and mental retardationsyndromeHP:0040282 - Frequent177
HP:0000028HP:0000028Cryptorchidism0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent149
HP:0000028HP:0000028Cryptorchidism0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent34
HP:0000028HP:0000028Cryptorchidism0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040282 - Frequent86
HP:0000028HP:0000028Cryptorchidism0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000028HP:0000028Cryptorchidism0XRCC4 CL E G H751812831ORPHA:99812LIG4 syndromeHP:0040283 - Occasional9
HP:0000028HP:0000028Cryptorchidism0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0000028HP:0000028Cryptorchidism0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome5
HP:0000028HP:0000028Cryptorchidism0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome.7
HP:0000028HP:0000028Cryptorchidism0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000028HP:0000028Cryptorchidism0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndrome17
HP:0000028HP:0000028Cryptorchidism0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000028HP:0000028Cryptorchidism0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome362
HP:0000028HP:0000028Cryptorchidism0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0000028HP:0000028Cryptorchidism0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0000028HP:0000028Cryptorchidism0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040282 - Frequent31
HP:0000028HP:0000028Cryptorchidism0ZFPM2 CL E G H2341416700ORPHA:3303Tetralogy of FallotHP:0040282 - Frequent31
HP:0000028HP:0000028Cryptorchidism0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000028HP:0000028Cryptorchidism0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000028HP:0000028Cryptorchidism0ZNF699 CL E G H37487924750OMIM:619488DEGCAGS SYNDROME; DEGCAGS
HP:0000028HP:0000028Cryptorchidism0ZSWIM6 CL E G H5768829316OMIM:603671Acromelic frontonasal dysostosisHP:0040283 - Occasional5
HP:0000028HP:0000028Cryptorchidism0ZSWIM6 CL E G H5768829316ORPHA:1827Acromelic frontonasal dysplasiaHP:0040283 - Occasional5
HP:0000028HP:0012741Unilateral cryptorchidism1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000028HP:0008689Bilateral cryptorchidism1ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0000028HP:0008689Bilateral cryptorchidism1AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0000028HP:0008689Bilateral cryptorchidism1AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0000028HP:0008689Bilateral cryptorchidism1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0000028HP:0008689Bilateral cryptorchidism1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0000028HP:0008689Bilateral cryptorchidism1ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000028HP:0008689Bilateral cryptorchidism1ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0000028HP:0008689Bilateral cryptorchidism1ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0000028HP:0008689Bilateral cryptorchidism1C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0000028HP:0008689Bilateral cryptorchidism1CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0000028HP:0008689Bilateral cryptorchidism1COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0000028HP:0008689Bilateral cryptorchidism1COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0000028HP:0008689Bilateral cryptorchidism1CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000028HP:0008689Bilateral cryptorchidism1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000028HP:0008689Bilateral cryptorchidism1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000028HP:0012741Unilateral cryptorchidism1DDX59 CL E G H8347925360OMIM:174300Orofaciodigital syndrome V2
HP:0000028HP:0008689Bilateral cryptorchidism1DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0000028HP:0008689Bilateral cryptorchidism1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000028HP:0008689Bilateral cryptorchidism1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0000028HP:0008689Bilateral cryptorchidism1FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000028HP:0008689Bilateral cryptorchidism1FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0000028HP:0008689Bilateral cryptorchidism1FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0000028HP:0008689Bilateral cryptorchidism1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000028HP:0008689Bilateral cryptorchidism1GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0000028HP:0008689Bilateral cryptorchidism1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000028HP:0008689Bilateral cryptorchidism1IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0000028HP:0012741Unilateral cryptorchidism1INSL3 CL E G H36406086OMIM:219050Cryptorchidism, unilateral or bilateral.5
HP:0000028HP:0008689Bilateral cryptorchidism1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000028HP:0008689Bilateral cryptorchidism1KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000028HP:0008689Bilateral cryptorchidism1KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000028HP:0008689Bilateral cryptorchidism1KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0000028HP:0012741Unilateral cryptorchidism1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000028HP:0008689Bilateral cryptorchidism1LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000028HP:0008689Bilateral cryptorchidism1MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0000028HP:0008689Bilateral cryptorchidism1MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0000028HP:0008689Bilateral cryptorchidism1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0000028HP:0012741Unilateral cryptorchidism1MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndrome2
HP:0000028HP:0012741Unilateral cryptorchidism1NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual developmentHP:0040284 - Very rare1
HP:0000028HP:0012741Unilateral cryptorchidism1NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000028HP:0008689Bilateral cryptorchidism1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0000028HP:0008689Bilateral cryptorchidism1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000028HP:0008689Bilateral cryptorchidism1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000028HP:0008689Bilateral cryptorchidism1OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000028HP:0008689Bilateral cryptorchidism1PAICS CL E G H106068587OMIM:619859
HP:0000028HP:0008689Bilateral cryptorchidism1PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000028HP:0008689Bilateral cryptorchidism1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0000028HP:0008689Bilateral cryptorchidism1RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1HP:0040283 - Occasional69
HP:0000028HP:0012741Unilateral cryptorchidism1RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000028HP:0008689Bilateral cryptorchidism1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000028HP:0008689Bilateral cryptorchidism1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0000028HP:0012741Unilateral cryptorchidism1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000028HP:0008689Bilateral cryptorchidism1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0000028HP:0008689Bilateral cryptorchidism1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040282 - Frequent23
HP:0000028HP:0012741Unilateral cryptorchidism1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000028HP:0008689Bilateral cryptorchidism1TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000028HP:0008689Bilateral cryptorchidism1TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000028HP:0008689Bilateral cryptorchidism1TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000028HP:0008689Bilateral cryptorchidism1TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0000028HP:0008689Bilateral cryptorchidism1VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0000028HP:0008689Bilateral cryptorchidism1WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0000028HP:0012741Unilateral cryptorchidism1XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndromeHP:0040283 - Occasional5
HP:0000028HP:0008689Bilateral cryptorchidism1ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0000028HP:0008689Bilateral cryptorchidism1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndromeHP:0040283 - Occasional17


Genes (745) :ABCD4 ABL1 ACTA2 ACTB ACTG2 ADARB1 ADAT3 ADNP AEBP1 AFF4 AKR1C2 AKR1C4 ALDH18A1 ALDH1A2 ALG12 ALG8 ALKBH8 ALX4 AMH AMHR2 ANAPC1 ANK1 ANKLE2 ANKRD11 ANOS1 AP1S2 APC2 AR ARCN1 ARID1A ARID1B ARID2 ARL6 ARNT2 ARVCF ARX ASH1L ASXL3 ATAD3A ATN1 ATP6V0A2 ATP6V1A ATP6V1E1 ATR ATRX AUTS2 AXL B3GALNT2 B3GLCT B4GALT7 B4GAT1 B9D1 B9D2 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCOR BDNF BICRA BIN1 BLM BMP4 BRAF BRCA1 BRCA2 BRD4 BRF1 BRIP1 BRWD3 BUB1B BUD23 C2CD3 CAMK2A CARS1 CASZ1 CBL CC2D2A CCBE1 CCDC141 CCDC174 CCDC22 CCDC32 CD96 CDC42 CDC42BPB CDC45 CDC6 CDCA7 CDH11 CDH2 CDK8 CDKN1C CDON CDT1 CEP120 CEP152 CEP19 CEP290 CFAP418 CHD4 CHD7 CHRM3 CHRNG CHST14 CILK1 CITED2 CKAP2L CLCN3 CLCN4 CLIP2 CLP1 COG1 COG5 COL3A1 COL4A1 COLEC10 COLEC11 COMT CPE CPLANE1 CPLX1 CREBBP CRPPA CSPP1 CTBP1 CTCF CUL4B CWC27 CYB5A CYP11A1 CYP17A1 CYP19A1 DACT1 DAG1 DAZ1 DAZ2 DAZ3 DAZ4 DCC DDB2 DDX3Y DDX59 DDX6 DGCR2 DGCR6 DGCR8 DHCR7 DHDDS DHODH DHX37 DIS3L2 DKC1 DLK1 DLL3 DLX4 DMRT3 DNAJC19 DNAJC21 DNAJC30 DNM2 DNMT3A DOK7 DPAGT1 DPF2 DPYSL5 DSE DTYMK DUSP6 DVL1 DVL3 DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBF3 EBP EED EFNB1 EHMT1 EIF2S3 EIF4H EIF5A ELN EMG1 EP300 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 ESS2 EVC EVC2 EXT2 EZH2 FAM149B1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FARS2 FAT4 FBLN1 FBN1 FBXW7 FDFT1 FEZF1 FGD1 FGF10 FGF17 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FIG4 FKBP6 FKRP FKTN FLG FLI1 FLNA FLNB FLRT3 FLT4 FMR1 FRAS1 FREM2 FTO FUZ FXR1 FZD2 G6PC3 GABRD GALT GATA1 GATA4 GATA5 GATA6 GDF1 GFM2 GJA5 GK GLE1 GLI1 GLI2 GLI3 GMNN GMPPB GNB2 GNRH1 GNRHR GP1BB GPC3 GPC4 GPC6 GPR161 GRB10 GRIA2 GRIA3 GRIN2B GRIP1 GSC GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 H1-4 H19 H19-ICR H4C9 HBA1 HBA2 HDAC4 HDAC8 HERC2 HES7 HESX1 HIBCH HIRA HMGA2 HNF1B HNRNPH1 HNRNPK HNRNPR HOXD13 HPSE2 HRAS HS2ST1 HS6ST1 HSD17B3 HSD3B2 HSPG2 HUWE1 HYLS1 HYMAI IER3IP1 IFT172 IFT27 IFT74 IFT80 IGBP1 IGF2 IL17RD INPPL1 INSL3 IPW IRF6 IRX5 JAG1 JAM3 JMJD1C KANSL1 KAT5 KAT6A KAT6B KCNAB2 KCNQ1 KCNQ1OT1 KDM1A KDM3B KDM5B KDM5C KDM6A KDM6B KDR KIAA0753 KIF7 KISS1 KISS1R KLHL15 KMT2D KMT2E KMT5B KRAS LARGE1 LAS1L LETM1 LFNG LHX1 LHX4 LIG4 LIMK1 LMBR1 LMNB2 LMOD1 LMX1B LONP1 LRIG2 LSS LUZP1 LZTFL1 LZTR1 MAD2L2 MADD MAF MAGEL2 MAMLD1 MAP2K1 MAP2K2 MAP3K1 MAP3K7 MAPK1 MAPRE2 MASP1 MBD5 MBTPS2 MC2R MCM5 MCTP2 MECP2 MED12 MED13L MEG3 MEGF8 MESP2 METTL27 MID1 MINPP1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MPLKIP MRAP MRAS MRPS28 MTM1 MTMR14 MTOR MUSK MYF6 MYH11 MYH3 MYL11 MYLK MYMK MYOD1 MYRF NAA10 NALCN NCF1 NDN NDNF NDP NDUFB7 NEDD4L NELFA NF1 NFIB NFIX NIPBL NKAP NKX2-5 NKX2-6 NNT NONO NOTCH2 NOTCH3 NPAP1 NPHP1 NR0B1 NR5A1 NRAS NSD1 NSD2 NSMF NSUN2 NUP88 NXN OCA2 OCRL ODC1 OFD1 OGT OPHN1 ORC1 ORC4 ORC6 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAICS PALB2 PAX2 PAX6 PAX7 PBX1 PDE4D PDE6D PDPN PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PHACTR1 PHF6 PHF8 PHGDH PHIP PIEZO2 PIGG PIGN PIGS PIK3C2A PLAG1 PLAGL1 PLVAP PNPLA6 POLA1 POLD1 POLE POLR1B POLR1C POLR1D POLR3A POLR3K POMGNT1 POMGNT2 POMK POMT1 POMT2 POR PORCN POU3F3 PPFIBP1 PPP1CB PPP1R12A PPP1R15B PRDM13 PRDM16 PRIM1 PRKACA PRKACB PRKAR1A PRKCZ PRMT7 PROK2 PROKR2 PRPS1 PSMC1 PSMD12 PTCH1 PTCH2 PTDSS1 PTPN11 PTPRF PWAR1 PWRN1 PYCR1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAC1 RAC3 RAD21 RAD51 RAD51C RAF1 RAPSN RARB RASA2 RBM10 RBMY1A1 RECQL4 RERE RFC2 RFWD3 RIN2 RIPK4 RIPPLY2 RIT1 RLIM RNF113A RNF135 RNU4ATAC ROBO1 ROR2 RORA RPGRIP1 RPGRIP1L RPL10 RRAS RRAS2 RREB1 RSPO2 RTL1 RTTN RXYLT1 RYR1 SALL1 SAMD9 SATB2 SCAPER SCYL2 SDCCAG8 SEC23A SEC24C SEMA3A SEMA3E SETBP1 SETD2 SETD5 SGPL1 SHOC2 SIAH1 SIM1 SIN3A SIX6 SKI SLC16A2 SLC18A3 SLC19A2 SLC25A24 SLC26A2 SLC35D1 SLX4 SMAD4 SMARCA2 SMARCA4 SMARCAL1 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMCHD1 SMOC1 SMS SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX11 SOX2 SOX3 SOX4 SOX9 SPECC1L SPEN SPRED2 SPRY4 SRA1 SRCAP SRD5A2 SRY STAC3 STAG1 STAR STRA6 STS STT3A STT3B STX1A STXBP1 SUFU SUZ12 SYNE1 TAC3 TACR3 TAF6 TARS1 TASP1 TBC1D20 TBCE TBCK TBL1XR1 TBL2 TBX1 TBX22 TBX3 TCF12 TCF4 TCOF1 TCTN1 TCTN2 TCTN3 TFAP2A TGDS THOC2 TIAM1 TINF2 TMEM107 TMEM216 TMEM231 TMEM237 TMEM270 TMEM67 TMEM70 TMEM94 TNRC6B TOE1 TOGARAM1 TOPORS TP63 TPM2 TRIM32 TRIP4 TRRAP TSPY1 TSPYL1 TTC5 TTC8 TUBA1A TUBB TWIST1 TWIST2 TXNDC15 TXNRD2 UBA1 UBE2A UBE2T UBE4B UBR1 UBR7 UFD1 UQCC2 USP7 USP9Y VAC14 VAMP7 VANGL1 VPS13B VPS35L VPS37D VPS50 WDPCP WDR11 WDR35 WDR37 WDR62 WNT3 WNT5A WNT7A WT1 WWOX XPA XPC XRCC2 XRCC4 XYLT2 YY1 ZBTB20 ZEB2 ZFPM2 ZMIZ1 ZMYM2 ZNF699 ZSWIM6

Diseases (674) :OMIM:614857 OMIM:617602 OMIM:613834 OMIM:243310 ORPHA:2241 OMIM:618862 ORPHA:363528 ORPHA:404448 ORPHA:536532 OMIM:618000 OMIM:616368 OMIM:614279 OMIM:219150 OMIM:620025 ORPHA:79324 OMIM:607143 OMIM:608104 OMIM:618504 OMIM:613451 ORPHA:228390 ORPHA:2856 OMIM:261550 ORPHA:221008 ORPHA:251066 OMIM:616681 ORPHA:261250 ORPHA:2332 OMIM:148050 OMIM:308700 ORPHA:478 ORPHA:1568 ORPHA:821 ORPHA:99429 ORPHA:95706 ORPHA:90797 OMIM:312300 OMIM:617164 ORPHA:1465 OMIM:614607 OMIM:135900 ORPHA:110 ORPHA:3157 OMIM:615926 ORPHA:567 OMIM:300004 ORPHA:452 OMIM:617796 OMIM:615485 ORPHA:496790 OMIM:618494 OMIM:278250 ORPHA:2834 OMIM:617403 OMIM:617402 OMIM:210600 ORPHA:847 OMIM:301040 OMIM:309580 ORPHA:352490 OMIM:146110 ORPHA:899 ORPHA:709 OMIM:261540 ORPHA:75496 ORPHA:564 ORPHA:904 OMIM:615982 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:893 OMIM:619325 ORPHA:169189 OMIM:210900 ORPHA:139471 OMIM:607932 ORPHA:1340 OMIM:163950 ORPHA:500 ORPHA:84 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:300659 OMIM:257300 ORPHA:434179 OMIM:615948 OMIM:617798 ORPHA:33364 ORPHA:1606 ORPHA:648 OMIM:613563 OMIM:235510 OMIM:616816 OMIM:300963 OMIM:619123 ORPHA:1308 OMIM:211750 OMIM:616737 OMIM:619841 ORPHA:2554 OMIM:617063 OMIM:613805 OMIM:616910 OMIM:211380 OMIM:618929 OMIM:618748 OMIM:130650 ORPHA:85173 OMIM:614732 ORPHA:397590 ORPHA:95496 OMIM:613804 OMIM:616300 OMIM:613823 OMIM:617159 OMIM:214800 ORPHA:138 OMIM:612370 ORPHA:432 ORPHA:2970 OMIM:100100 ORPHA:2990 OMIM:265000 OMIM:601776 ORPHA:2953 OMIM:612651 ORPHA:3303 ORPHA:3255 OMIM:272440 OMIM:619512 ORPHA:485350 OMIM:615803 OMIM:611209 ORPHA:263487 OMIM:130050 ORPHA:286 ORPHA:293843 OMIM:248340 OMIM:265050 OMIM:619326 ORPHA:2754 OMIM:194190 ORPHA:280 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:363611 OMIM:615502 OMIM:300354 ORPHA:166035 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 ORPHA:91 ORPHA:857 ORPHA:1646 ORPHA:910 OMIM:174300 OMIM:618653 OMIM:192430 OMIM:270400 ORPHA:818 OMIM:613861 OMIM:263750 ORPHA:251510 OMIM:267000 ORPHA:2849 OMIM:305000 ORPHA:96334 ORPHA:96184 ORPHA:2311 OMIM:616788 OMIM:610198 ORPHA:66634 OMIM:617052 ORPHA:404443 ORPHA:994 OMIM:608093 OMIM:619435 OMIM:619847 ORPHA:3107 OMIM:180700 OMIM:616331 OMIM:616894 ORPHA:93271 OMIM:615633 ORPHA:289 ORPHA:268261 ORPHA:464311 OMIM:617330 OMIM:300960 ORPHA:401973 OMIM:617561 ORPHA:3447 OMIM:304110 OMIM:610253 ORPHA:96147 ORPHA:85282 OMIM:619376 ORPHA:1270 ORPHA:353284 ORPHA:90322 ORPHA:90321 OMIM:214150 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:3103 OMIM:268300 OMIM:225500 OMIM:616682 ORPHA:466926 OMIM:277590 OMIM:227650 ORPHA:3412 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 ORPHA:466722 OMIM:615546 ORPHA:404451 ORPHA:2462 OMIM:620012 OMIM:618156 OMIM:616030 OMIM:305400 ORPHA:915 ORPHA:2363 OMIM:612702 OMIM:613001 OMIM:615465 OMIM:147950 OMIM:166250 ORPHA:2645 OMIM:101200 ORPHA:1555 ORPHA:794 OMIM:216340 ORPHA:3472 OMIM:620103 ORPHA:370968 OMIM:236670 ORPHA:461 ORPHA:2308 OMIM:304120 OMIM:108720 ORPHA:1263 OMIM:150250 ORPHA:503 ORPHA:261483 ORPHA:2052 OMIM:219000 OMIM:612938 ORPHA:3027 OMIM:618823 OMIM:618822 ORPHA:93328 OMIM:164745 OMIM:612541 ORPHA:79239 ORPHA:67044 ORPHA:251071 OMIM:615542 ORPHA:565624 OMIM:307030 OMIM:611890 OMIM:615849 OMIM:610829 ORPHA:36 OMIM:175700 OMIM:146510 ORPHA:672 ORPHA:93322 OMIM:616835 OMIM:619503 OMIM:614841 ORPHA:373 OMIM:312870 ORPHA:93329 OMIM:258315 ORPHA:96182 OMIM:618917 ORPHA:364028 OMIM:613970 OMIM:602471 OMIM:616395 OMIM:617537 ORPHA:2128 OMIM:619951 ORPHA:98791 OMIM:619797 OMIM:300882 ORPHA:3459 OMIM:176270 ORPHA:88639 ORPHA:261265 OMIM:620083 OMIM:616580 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:887 ORPHA:2704 OMIM:236730 ORPHA:3071 ORPHA:2874 OMIM:619194 OMIM:614880 ORPHA:752 ORPHA:90791 ORPHA:1865 OMIM:224410 OMIM:309590 ORPHA:2189 ORPHA:96191 OMIM:614231 OMIM:619471 OMIM:300472 OMIM:616489 ORPHA:3144 OMIM:219050 ORPHA:1300 OMIM:119500 OMIM:611174 OMIM:613730 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:616728 ORPHA:477993 OMIM:618846 OMIM:618109 OMIM:300534 ORPHA:85279 ORPHA:2322 OMIM:147920 OMIM:618505 OMIM:200990 OMIM:614837 OMIM:300982 OMIM:618512 OMIM:617788 OMIM:609942 OMIM:309585 ORPHA:235 ORPHA:99812 OMIM:606593 ORPHA:2378 OMIM:619180 ORPHA:495818 OMIM:600373 OMIM:618840 OMIM:616564 OMIM:605275 OMIM:619004 OMIM:619005 ORPHA:1272 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:456328 ORPHA:638 OMIM:617137 OMIM:619087 ORPHA:2505 OMIM:616734 ORPHA:228402 ORPHA:85284 ORPHA:2273 OMIM:308205 ORPHA:361 OMIM:617564 ORPHA:1596 OMIM:300260 ORPHA:1762 ORPHA:93932 OMIM:300895 OMIM:305450 ORPHA:369891 OMIM:616789 ORPHA:65759 OMIM:614976 ORPHA:2745 OMIM:300000 ORPHA:284339 OMIM:236700 ORPHA:2473 OMIM:249000 OMIM:618958 OMIM:310400 ORPHA:457485 OMIM:616638 OMIM:208150 OMIM:193700 ORPHA:2053 OMIM:619110 OMIM:254940 OMIM:618280 ORPHA:276432 OMIM:300855 OMIM:615419 OMIM:618841 ORPHA:649 OMIM:620135 OMIM:617201 OMIM:601321 OMIM:618286 ORPHA:447980 OMIM:602535 OMIM:122470 OMIM:301039 OMIM:614736 ORPHA:466791 OMIM:300967 OMIM:102500 ORPHA:2789 OMIM:130720 OMIM:300200 ORPHA:2138 OMIM:613224 OMIM:117550 OMIM:618393 ORPHA:1507 OMIM:309000 ORPHA:534 OMIM:619075 ORPHA:544488 OMIM:300997 OMIM:300486 OMIM:224690 OMIM:613803 OMIM:301056 ORPHA:505237 OMIM:617452 OMIM:610125 ORPHA:329224 OMIM:615009 OMIM:618067 OMIM:619859 ORPHA:97362 OMIM:194072 OMIM:618578 OMIM:617641 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:214100 ORPHA:912 OMIM:614866 OMIM:214110 OMIM:618298 ORPHA:127 OMIM:301900 ORPHA:85287 OMIM:256520 OMIM:617991 ORPHA:589905 OMIM:114300 ORPHA:376 OMIM:248700 ORPHA:2059 OMIM:618143 OMIM:618440 OMIM:618183 ORPHA:2377 OMIM:275400 ORPHA:163976 OMIM:615381 OMIM:618336 ORPHA:861 ORPHA:3455 OMIM:264090 OMIM:619310 OMIM:613156 OMIM:201750 ORPHA:95699 OMIM:305600 OMIM:618604 OMIM:620024 ORPHA:2701 OMIM:617506 OMIM:618820 OMIM:616817 OMIM:619761 OMIM:620005 OMIM:101800 ORPHA:464288 OMIM:610628 OMIM:244200 OMIM:300661 OMIM:620071 OMIM:617516 ORPHA:377 ORPHA:2658 OMIM:151050 OMIM:151100 OMIM:616001 OMIM:614438 ORPHA:2510 OMIM:201000 ORPHA:1387 OMIM:600118 OMIM:212720 OMIM:614225 ORPHA:500159 OMIM:618577 OMIM:613390 OMIM:611553 OMIM:618388 ORPHA:2470 OMIM:615524 ORPHA:2886 ORPHA:221016 OMIM:268400 OMIM:616975 ORPHA:494344 OMIM:613075 ORPHA:217335 OMIM:263650 OMIM:615355 OMIM:300978 ORPHA:137634 ORPHA:2636 OMIM:210710 OMIM:268310 OMIM:618060 OMIM:300998 ORPHA:459070 ORPHA:435938 ORPHA:3301 ORPHA:468631 ORPHA:98905 OMIM:619542 OMIM:107480 OMIM:617053 ORPHA:251028 OMIM:618766 OMIM:607812 OMIM:614897 OMIM:616078 ORPHA:404440 OMIM:617575 OMIM:607721 OMIM:619314 ORPHA:398079 ORPHA:94065 OMIM:613406 OMIM:206900 OMIM:182212 ORPHA:59 OMIM:249270 OMIM:612289 ORPHA:628 OMIM:613951 OMIM:139210 ORPHA:2588 OMIM:619293 ORPHA:2728 ORPHA:3051 OMIM:601358 OMIM:242900 OMIM:610759 OMIM:603457 ORPHA:2250 ORPHA:1106 OMIM:309583 ORPHA:3063 OMIM:610733 OMIM:616559 OMIM:609136 OMIM:613266 ORPHA:77298 ORPHA:1519 OMIM:619745 OMIM:619595 ORPHA:2044 OMIM:136140 ORPHA:753 OMIM:264600 ORPHA:1772 OMIM:255995 ORPHA:168572 OMIM:617635 ORPHA:502434 OMIM:601186 OMIM:308100 ORPHA:281090 ORPHA:370921 OMIM:615597 ORPHA:370924 OMIM:618786 OMIM:618484 ORPHA:319332 OMIM:614840 OMIM:617126 OMIM:618950 OMIM:615663 OMIM:241410 ORPHA:2323 ORPHA:488632 ORPHA:487825 OMIM:602342 ORPHA:921 ORPHA:3138 OMIM:619718 OMIM:610954 ORPHA:2896 OMIM:154500 OMIM:113620 OMIM:616145 OMIM:300957 OMIM:619908 OMIM:613990 OMIM:614052 ORPHA:1194 OMIM:618316 OMIM:619243 OMIM:614969 OMIM:619185 OMIM:604292 OMIM:108120 ORPHA:486815 OMIM:618454 OMIM:608800 ORPHA:168593 OMIM:619244 OMIM:617746 OMIM:209885 ORPHA:1145 OMIM:301830 ORPHA:163956 OMIM:243800 OMIM:619189 OMIM:615824 ORPHA:500055 OMIM:616863 ORPHA:193 OMIM:619135 OMIM:619685 ORPHA:1338 OMIM:614858 OMIM:618652 OMIM:604317 ORPHA:2879 OMIM:276820 ORPHA:3097 OMIM:616541 OMIM:605822 OMIM:617557 ORPHA:506358 ORPHA:3042 OMIM:259050 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:618659 OMIM:619522 OMIM:619488 OMIM:603671 ORPHA:1827
 

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