Human Phenotype Ontology 
Grandparent Node:
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Abnormal testis morphology (HP:0000035)help
Parent Node:
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Cryptorchidism (HP:0000028)help
..Starting node
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Bilateral cryptorchidism (HP:0008689)help
Term ID: 8689
Name: Bilateral cryptorchidism
Synonym: Cryptorchidism, bilateral
Definition: Absence of 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:0008689
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandUnilateral cryptorchidism (HP:0012741) 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:0008689HP:0008689Bilateral cryptorchidism0ALX4 CL E G H60529450OMIM:613451Frontonasal dysplasia 2132
HP:0008689HP:0008689Bilateral cryptorchidism0AMH CL E G H268464OMIM:261550Persistent mullerian duct syndrome, types I and II9
HP:0008689HP:0008689Bilateral cryptorchidism0AMHR2 CL E G H269465OMIM:261550Persistent mullerian duct syndrome, types I and II8
HP:0008689HP:0008689Bilateral cryptorchidism0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0008689HP:0008689Bilateral cryptorchidism0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040282 - Frequent125
HP:0008689HP:0008689Bilateral cryptorchidism0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0008689HP:0008689Bilateral cryptorchidism0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0008689HP:0008689Bilateral cryptorchidism0ATP6V1E1 CL E G H529857OMIM:617402Cutis laxa, autosomal recessive, type IIC.2
HP:0008689HP:0008689Bilateral cryptorchidism0C2CD3 CL E G H2600524564ORPHA:434179Orofaciodigital syndrome type 14HP:0040282 - Frequent27
HP:0008689HP:0008689Bilateral cryptorchidism0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0008689HP:0008689Bilateral cryptorchidism0COLEC10 CL E G H105842220ORPHA:2938433MC syndromeHP:0040282 - Frequent3
HP:0008689HP:0008689Bilateral cryptorchidism0COLEC11 CL E G H7898917213ORPHA:2938433MC syndromeHP:0040282 - Frequent9
HP:0008689HP:0008689Bilateral cryptorchidism0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0008689HP:0008689Bilateral cryptorchidism0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0008689HP:0008689Bilateral cryptorchidism0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0008689HP:0008689Bilateral cryptorchidism0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040283 - Occasional25
HP:0008689HP:0008689Bilateral cryptorchidism0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0008689HP:0008689Bilateral cryptorchidism0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0008689HP:0008689Bilateral cryptorchidism0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0008689HP:0008689Bilateral cryptorchidism0FARS2 CL E G H1066721062ORPHA:466722Autosomal recessive spastic paraplegia type 77HP:0040283 - Occasional36
HP:0008689HP:0008689Bilateral cryptorchidism0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0008689HP:0008689Bilateral cryptorchidism0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0008689HP:0008689Bilateral cryptorchidism0GTF2H5 CL E G H40467221157OMIM:616395Trichothiodystrophy 3, photosensitive3
HP:0008689HP:0008689Bilateral cryptorchidism0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0008689HP:0008689Bilateral cryptorchidism0IGBP1 CL E G H34765461OMIM:300472CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA5
HP:0008689HP:0008689Bilateral cryptorchidism0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0008689HP:0008689Bilateral cryptorchidism0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0008689HP:0008689Bilateral cryptorchidism0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0008689HP:0008689Bilateral cryptorchidism0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0008689HP:0008689Bilateral cryptorchidism0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0008689HP:0008689Bilateral cryptorchidism0MASP1 CL E G H56486901ORPHA:2938433MC syndromeHP:0040282 - Frequent21
HP:0008689HP:0008689Bilateral cryptorchidism0MCM5 CL E G H41746948OMIM:617564Meier-Gorlin syndrome 8.2
HP:0008689HP:0008689Bilateral cryptorchidism0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0008689HP:0008689Bilateral cryptorchidism0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0008689HP:0008689Bilateral cryptorchidism0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0008689HP:0008689Bilateral cryptorchidism0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0008689HP:0008689Bilateral cryptorchidism0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0008689HP:0008689Bilateral cryptorchidism0PAICS CL E G H106068587OMIM:619859
HP:0008689HP:0008689Bilateral cryptorchidism0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0008689HP:0008689Bilateral cryptorchidism0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0008689HP:0008689Bilateral cryptorchidism0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 1HP:0040283 - Occasional69
HP:0008689HP:0008689Bilateral cryptorchidism0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0008689HP:0008689Bilateral cryptorchidism0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0008689HP:0008689Bilateral cryptorchidism0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0008689HP:0008689Bilateral cryptorchidism0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040282 - Frequent23
HP:0008689HP:0008689Bilateral cryptorchidism0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0008689HP:0008689Bilateral cryptorchidism0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0008689HP:0008689Bilateral cryptorchidism0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0008689HP:0008689Bilateral cryptorchidism0TWIST1 CL E G H729112428OMIM:617746Sweeney-Cox syndrome.18
HP:0008689HP:0008689Bilateral cryptorchidism0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0008689HP:0008689Bilateral cryptorchidism0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0008689HP:0008689Bilateral cryptorchidism0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040282 - Frequent17
HP:0008689HP:0008689Bilateral cryptorchidism0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndromeHP:0040283 - Occasional17


Genes (51) :ALX4 AMH AMHR2 AR ASH1L ATP6V1A ATP6V1E1 C2CD3 CDH11 COLEC10 COLEC11 CPLANE1 CREBBP CYP17A1 DNAJC19 EP300 ERCC6 FAM149B1 FARS2 FDFT1 FGD1 GTF2H5 IFT172 IGBP1 KAT6A KIAA0753 KIF7 KLHL15 LSS MASP1 MCM5 MEGF8 NFIX NONO ODC1 OFD1 PAICS PDE6D POLE RIPK4 RPL10 RYR1 SMARCAL1 SRY TCTN3 TMEM216 TOPORS TWIST1 VPS50 WDR37 ZBTB20

Diseases (41) :OMIM:613451 OMIM:261550 ORPHA:99429 ORPHA:90797 OMIM:617796 OMIM:617403 OMIM:617402 ORPHA:434179 OMIM:211380 ORPHA:293843 ORPHA:2754 OMIM:180849 ORPHA:90793 ORPHA:66634 OMIM:278800 ORPHA:466722 OMIM:618156 OMIM:305400 OMIM:616395 OMIM:619471 OMIM:300472 OMIM:616268 OMIM:300982 OMIM:618840 OMIM:617564 OMIM:614976 OMIM:602535 ORPHA:466791 ORPHA:544488 OMIM:619859 OMIM:618336 OMIM:263650 OMIM:300998 OMIM:619542 OMIM:242900 ORPHA:1772 OMIM:617746 OMIM:619685 OMIM:618652 ORPHA:3042 OMIM:259050
 

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