Human Phenotype Ontology 
Grandparent Node:
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Abnormal size of the clitoris (HP:0040252)help
Parent Node:
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Increased size of the clitoris (HP:0040253)help
..Starting node
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Clitoral hypertrophy (HP:0008665)help
Term ID: 8665
Name: Clitoral hypertrophy
Synonym: Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris
Definition: Hypertrophy of the clitoris.
Comments:
Reference: HP:0008665
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0008665HP:0008665Clitoral hypertrophy0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143156325603100
HP:0008665HP:0008665Clitoral hypertrophy0ATIC CL E G H471250977ORPHA1853794601731
HP:0008665HP:0008665Clitoral hypertrophy0ATIC CL E G H471608688AICAR transformylase/IMP cyclohydrolase deficiency608688C1837530OMIM1853794601731
HP:0008665HP:0008665Clitoral hypertrophy0ATR CL E G H545210600Seckel syndrome 1210600CN033164OMIM134285882601215
HP:0008665HP:0008665Clitoral hypertrophy0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15022415832606158
HP:0008665HP:0008665Clitoral hypertrophy0CCNQ CL E G H92002140952ORPHA11122328434300708
HP:0008665HP:0008665Clitoral hypertrophy0CCNQ CL E G H92002300707STAR syndrome300707C2678045OMIM11122328434300708
HP:0008665HP:0008665Clitoral hypertrophy0CD96 CL E G H10225211750C syndrome211750C0796095OMIM1310916892606037
HP:0008665HP:0008665Clitoral hypertrophy0CDC45 CL E G H83182554ORPHA1193781739603465
HP:0008665HP:0008665Clitoral hypertrophy0CDC45 CL E G H8318617063Meier-gorlin syndrome 7617063C4310738OMIM1193781739603465
HP:0008665HP:0008665Clitoral hypertrophy0CDC6 CL E G H9902554ORPHA14461744602627
HP:0008665HP:0008665Clitoral hypertrophy0CDT1 CL E G H816202554ORPHA11215524576605525
HP:0008665HP:0008665Clitoral hypertrophy0COX7B CL E G H1349309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM151622291300885
HP:0008665HP:0008665Clitoral hypertrophy0CYP11B1 CL E G H158490795ORPHA11612702591610613
HP:0008665HP:0008665Clitoral hypertrophy0CYP11B1 CL E G H1584202010Deficiency of steroid 11-beta-monooxygenase202010C0268292OMIM11612702591610613
HP:0008665HP:0008665Clitoral hypertrophy0DHCR7 CL E G H1717818ORPHA12183332860602858
HP:0008665HP:0008665Clitoral hypertrophy0DMRT3 CL E G H58524251510ORPHA1118913909614754
HP:0008665HP:0008665Clitoral hypertrophy0ESCO2 CL E G H1575703103ORPHA13119027230609353
HP:0008665HP:0008665Clitoral hypertrophy0ESCO2 CL E G H157570268300Roberts-SC phocomelia syndrome268300C0392475OMIM13119027230609353
HP:0008665HP:0008665Clitoral hypertrophy0FGFR2 CL E G H2263313855ORPHA11592933689176943
HP:0008665HP:0008665Clitoral hypertrophy0FGFR2 CL E G H2263614592Bent bone dysplasia syndrome614592C3281247OMIM11592933689176943
HP:0008665HP:0008665Clitoral hypertrophy0FRAS1 CL E G H80144219000Cryptophthalmos syndrome219000C0265233OMIM16151319185607830
HP:0008665HP:0008665Clitoral hypertrophy0GATA4 CL E G H2626251510ORPHA11712884173600576
HP:0008665HP:0008665Clitoral hypertrophy0GMNN CL E G H510532554ORPHA132117493602842
HP:0008665HP:0008665Clitoral hypertrophy0HCCS CL E G H3052309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1141984837300056
HP:0008665HP:0008665Clitoral hypertrophy0HSD3B2 CL E G H328490791ORPHA163775218613890
HP:0008665HP:0008665Clitoral hypertrophy0INSR CL E G H3643246200Leprechaunism syndrome246200C0265344OMIM11963346091147670
HP:0008665HP:0008665Clitoral hypertrophy0INSR CL E G H3643262190Pineal hyperplasia AND diabetes mellitus syndrome262190C0271695OMIM11963346091147670
HP:0008665HP:0008665Clitoral hypertrophy0KAT6B CL E G H2352285201ORPHA17625617582605880
HP:0008665HP:0008665Clitoral hypertrophy0KAT6B CL E G H23522606170Genitopatellar syndrome606170C1853566OMIM17625617582605880
HP:0008665HP:0008665Clitoral hypertrophy0MAP3K1 CL E G H4214251510ORPHA133996848600982
HP:0008665HP:0008665Clitoral hypertrophy0NDUFB11 CL E G H54539309801Linear skin defects with multiple congenital anomalies 1309801C0796070OMIM1616120372300403
HP:0008665HP:0008665Clitoral hypertrophy0NR0B1 CL E G H190251510ORPHA12552607960300473
HP:0008665HP:0008665Clitoral hypertrophy0NR5A1 CL E G H2516251510ORPHA1189987983184757
HP:0008665HP:0008665Clitoral hypertrophy0NR5A1 CL E G H251661748046,XX sex reversal 4617480C4479552OMIM1189987983184757
HP:0008665HP:0008665Clitoral hypertrophy0ORC1 CL E G H49982554ORPHA112838487601902
HP:0008665HP:0008665Clitoral hypertrophy0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM112838487601902
HP:0008665HP:0008665Clitoral hypertrophy0ORC4 CL E G H50002554ORPHA16828490603056
HP:0008665HP:0008665Clitoral hypertrophy0ORC4 CL E G H5000613800Meier-Gorlin syndrome 2613800C3151097OMIM16828490603056
HP:0008665HP:0008665Clitoral hypertrophy0ORC6 CL E G H235942554ORPHA167417151607213
HP:0008665HP:0008665Clitoral hypertrophy0ORC6 CL E G H23594613803Meier-Gorlin syndrome 3613803C3151113OMIM167417151607213
HP:0008665HP:0008665Clitoral hypertrophy0PEX1 CL E G H5189912ORPHA11404028850602136
HP:0008665HP:0008665Clitoral hypertrophy0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11404028850602136
HP:0008665HP:0008665Clitoral hypertrophy0PEX10 CL E G H5192912ORPHA1322908851602859
HP:0008665HP:0008665Clitoral hypertrophy0PEX11B CL E G H8799912ORPHA182198853603867
HP:0008665HP:0008665Clitoral hypertrophy0PEX12 CL E G H5193912ORPHA1371438854601758
HP:0008665HP:0008665Clitoral hypertrophy0PEX13 CL E G H5194912ORPHA1101368855601789
HP:0008665HP:0008665Clitoral hypertrophy0PEX14 CL E G H5195912ORPHA151388856601791
HP:0008665HP:0008665Clitoral hypertrophy0PEX16 CL E G H9409912ORPHA1151168857603360
HP:0008665HP:0008665Clitoral hypertrophy0PEX19 CL E G H5824912ORPHA141069713600279
HP:0008665HP:0008665Clitoral hypertrophy0PEX2 CL E G H5828912ORPHA1181619717170993
HP:0008665HP:0008665Clitoral hypertrophy0PEX2 CL E G H5828614866Peroxisome biogenesis disorder 5a (zellweger)614866C3553940OMIM1181619717170993
HP:0008665HP:0008665Clitoral hypertrophy0PEX26 CL E G H55670912ORPHA12721522965608666
HP:0008665HP:0008665Clitoral hypertrophy0PEX3 CL E G H8504912ORPHA110878858603164
HP:0008665HP:0008665Clitoral hypertrophy0PEX5 CL E G H5830912ORPHA1142189719600414
HP:0008665HP:0008665Clitoral hypertrophy0PEX5 CL E G H5830214110Peroxisome biogenesis disorder 2a (zellweger)214110C1859228OMIM1142189719600414
HP:0008665HP:0008665Clitoral hypertrophy0PEX6 CL E G H5190912ORPHA11093068859601498
HP:0008665HP:0008665Clitoral hypertrophy0POR CL E G H544795699ORPHA1921739208124015
HP:0008665HP:0008665Clitoral hypertrophy0POR CL E G H5447201750Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis201750C1860042OMIM1921739208124015
HP:0008665HP:0008665Clitoral hypertrophy0RSPO1 CL E G H284654610644Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal610644C3149931OMIM161721679609595
HP:0008665HP:0008665Clitoral hypertrophy0SOX9 CL E G H6662251510ORPHA114918811204608160
HP:0008665HP:0008665Clitoral hypertrophy0SRY CL E G H6736251510ORPHA11099011311480000
HP:0008665HP:0008665Clitoral hypertrophy0TALDO1 CL E G H6888606003Deficiency of transaldolase606003C1291329OMIM1107311559602063
HP:0008665HP:0008665Clitoral hypertrophy0TRAIP CL E G H10293616777Seckel syndrome 9616777C4225212OMIM122630764605958
HP:0008665HP:0008665Clitoral hypertrophy0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1255113478608047
HP:0008665HP:0008665Clitoral hypertrophy0UBR1 CL E G H197131243800Johanson-Blizzard syndrome243800C0175692OMIM1719516808605981
HP:0008665HP:0008665Clitoral hypertrophy0VAMP7 CL E G H6845251510ORPHA1212411486300053
HP:0008665HP:0008665Clitoral hypertrophy0WT1 CL E G H7490251510ORPHA118449012796607102
HP:0008665HP:0008665Clitoral hypertrophy0WWOX CL E G H51741251510ORPHA15050312799605131
HP:0008665HP:0008665Clitoral hypertrophy0ZFPM2 CL E G H23414251510ORPHA15213116700603693
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008665HP:0008665Clitoral hypertrophy0CEP152 CL E G H22995613823Seckel syndrome 5613823C3151187OMIM02022129298613529
HP:0008665HP:0008665Clitoral hypertrophy0COX7B CL E G H13492556ORPHA051622291300885
HP:0008665HP:0008665Clitoral hypertrophy0CYP11A1 CL E G H1583168558ORPHA030812590118485
HP:0008665HP:0008665Clitoral hypertrophy0CYP11A1 CL E G H1583289548ORPHA030812590118485
HP:0008665HP:0008665Clitoral hypertrophy0FIG4 CL E G H98963472MeningococcemiaORPHA07131816873609390
HP:0008665HP:0008665Clitoral hypertrophy0HCCS CL E G H30522556ORPHA0141984837300056
HP:0008665HP:0008665Clitoral hypertrophy0MAP3K1 CL E G H421461376246,XY sex reversal, type 6613762C3151064OMIM033996848600982
HP:0008665HP:0008665Clitoral hypertrophy0NDUFB11 CL E G H545392556ORPHA0616120372300403
HP:0008665HP:0008665Clitoral hypertrophy0NR5A1 CL E G H251661296546,XY sex reversal, type 3612965C2751824OMIM0189987983184757
HP:0008665HP:0008665Clitoral hypertrophy0NR5A1 CL E G H2516612964Premature ovarian failure 7612964C2751825OMIM0189987983184757
HP:0008665HP:0008665Clitoral hypertrophy0UBE3B CL E G H899102707ORPHA0255113478608047
HP:0008665HP:0008665Clitoral hypertrophy0VAC14 CL E G H556973472MeningococcemiaORPHA077625507604632


Genes (58) :AGPAT2 ATIC ATR BSCL2 CCNQ CD96 CDC45 CDC6 CDT1 CEP152 COX7B CYP11A1 CYP11B1 DHCR7 DMRT3 ESCO2 FGFR2 FIG4 FRAS1 GATA4 GMNN HCCS HSD3B2 INSR KAT6B MAP3K1 NDUFB11 NR0B1 NR5A1 ORC1 ORC4 ORC6 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 POR RSPO1 SOX9 SRY TALDO1 TRAIP UBE3B UBR1 VAC14 VAMP7 WT1 WWOX ZFPM2

Diseases (49) :608594 250977 608688 210600 269700 140952 300707 211750 2554 617063 613823 2556 309801 168558 289548 90795 202010 818 251510 3103 268300 313855 614592 3472 219000 90791 246200 262190 85201 606170 613762 617480 612965 612964 224690 613800 613803 912 214100 614866 214110 95699 201750 610644 606003 616777 2707 244450 243800
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.