Human Phenotype Ontology 
Grandparent Node:
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Abnormal circulating hormone concentration (HP:0003117)help
Parent Node:
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Abnormal circulating gonadotropin concentration (HP:0030338)help
..Starting node
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Abnormal circulating luteinizing hormone concentration (HP:0030345)help
Term ID: 30345
Name: Abnormal circulating luteinizing hormone concentration
Synonym: Abnormal circulating luteinizing hormone level; Abnormal luteinizing hormone level; Increased circulating lutropin
Definition: An anomaly of the circulating level of luteinizing hormone (LH).
Comments:
Reference: HP:0030345
Genes and Diseases:
 
       Child Nodes:
........expandElevated circulating luteinizing hormone level (HP:0011969) help
........expandDecreased circulating luteinizing hormone level (HP:0030344) help

 Sister Nodes: 
..expandAbnormal circulating follicle-stimulating hormone concentration (HP:0030346) help
..expandDecreased circulating gonadotropin concentration (HP:0030339) help
..expandIncreased circulating gonadotropin level (HP:0000837) 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:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0AR CL E G H367644OMIM:300068Androgen insensitivity syndrome125
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndrome125
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndrome125
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency31
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency31
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0DIAPH2 CL E G H17302877OMIM:300511Premature ovarian failure 2A6
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0ESR2 CL E G H21003468OMIM:618187Ovarian dysgenesis 8
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28107
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0FIGLA CL E G H34401824669OMIM:612310PREMATURE OVARIAN FAILURE 6; POF617
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus92
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia23
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0GCNA CL E G H9395315805OMIM:301077SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0GDF9 CL E G H26614224OMIM:618014Premature ovarian failure 142
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia3
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0KISS1R CL E G H846344510OMIM:176400Precocious puberty, central14
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0LGR4 CL E G H5536613299OMIM:619613DELAYED PUBERTY, SELF-LIMITED; DPSL1
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0MCM8 CL E G H8451516147OMIM:612885Premature ovarian failure 104
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0MSH4 CL E G H44387327OMIM:619938
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NHLH2 CL E G H48087818OMIM:619755HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NR5A1 CL E G H25167983OMIM:61296546XY sex reversal 338
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency76
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0PSMC3IP CL E G H2989317928OMIM:614324Ovarian dysgenesis 32
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SPIDR CL E G H2351428971OMIM:619665OVARIAN DYSGENESIS 9; ODG92
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SRY CL E G H673611311OMIM:40004546XX sex reversal 123
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SRY CL E G H673611311OMIM:40004446XY sex reversal 123
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0STAG3 CL E G H1073411356OMIM:615723Premature ovarian failure 84
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0030345HP:0030345Abnormal circulating luteinizing hormone concentration0ZSWIM7 CL E G H12515026993OMIM:619834OVARIAN DYSGENESIS 10; ODG10
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1AR CL E G H367644OMIM:300068Androgen insensitivity syndrome.125
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1AR CL E G H367644ORPHA:99429Complete androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1AR CL E G H367644ORPHA:90797Partial androgen insensitivity syndromeHP:0040281 - Very frequent125
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1C14ORF39 CL E G H31776119849OMIM:619203PREMATURE OVARIAN FAILURE 18; POF18
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040282 - Frequent31
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040282 - Frequent31
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1DHX37 CL E G H5764717210OMIM:27325046, XY sex reversal 112
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1DIAPH2 CL E G H17302877OMIM:300511Premature ovarian failure 2A6
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1ESR2 CL E G H21003468OMIM:618187Ovarian dysgenesis 8.
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1FANCM CL E G H5769723168OMIM:618086Spermatogenic failure 28.107
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1FIGLA CL E G H34401824669OMIM:612310PREMATURE OVARIAN FAILURE 6; POF617
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia23
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1GCNA CL E G H9395315805OMIM:301077SPERMATOGENIC FAILURE, X-LINKED, 4; SPGFX4
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1GDF9 CL E G H26614224OMIM:618014Premature ovarian failure 14.2
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia3
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1KISS1R CL E G H846344510OMIM:176400Precocious puberty, central.14
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1LGR4 CL E G H5536613299OMIM:619613DELAYED PUBERTY, SELF-LIMITED; DPSL1
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1MCM8 CL E G H8451516147OMIM:612885Premature ovarian failure 10.4
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1MSH4 CL E G H44387327OMIM:619938
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1NHLH2 CL E G H48087818OMIM:619755HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA; HH27
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1NR5A1 CL E G H25167983OMIM:61296546XY sex reversal 338
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1NR5A1 CL E G H25167983OMIM:612964PREMATURE OVARIAN FAILURE 7; POF738
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 10.2
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1OTX2 CL E G H50158522OMIM:613986Pituitary hormone deficiency, combined, 641
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1PPP2R3C CL E G H5501217485OMIM:618419Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy.
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1PSMC3IP CL E G H2989317928OMIM:614324Ovarian dysgenesis 32
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1SPIDR CL E G H2351428971OMIM:619665OVARIAN DYSGENESIS 9; ODG92
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1SRY CL E G H673611311OMIM:40004546XX sex reversal 1.23
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1SRY CL E G H673611311OMIM:40004446XY sex reversal 1.23
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1STAG3 CL E G H1073411356OMIM:615723Premature ovarian failure 84
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0030345HP:0030344Decreased circulating luteinizing hormone level1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1XRCC2 CL E G H751612829OMIM:619146PREMATURE OVARIAN FAILURE 17; POF17125
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0030345HP:0011969Elevated circulating luteinizing hormone level1ZSWIM7 CL E G H12515026993OMIM:619834OVARIAN DYSGENESIS 10; ODG10


Genes (63) :AKT1 ANOS1 AR BAP1 BMPR1B C14ORF39 CYB5A CYP11A1 CYP17A1 DHX37 DIAPH2 DMRT3 DMXL2 ESR2 FANCM FGD1 FIGLA FOXL2 FSHB GATA4 GCNA GDF9 HESX1 KISS1 KISS1R LGR4 LHB LHX3 LHX4 MAP3K1 MCM8 MSH4 NF2 NHLH2 NR0B1 NR5A1 NSMCE2 OTX2 PDGFB PIK3CA POR POU1F1 PPP2R3C PRDM13 PROP1 PSMC3IP SEMA3A SMARCB1 SMARCE1 SMO SOX9 SPIDR SRY STAG3 SUFU TERT TRAF7 VAMP7 WT1 WWOX XRCC2 ZFPM2 ZSWIM7

Diseases (46) :ORPHA:2495 OMIM:308700 OMIM:300068 ORPHA:99429 ORPHA:90797 OMIM:609441 OMIM:619203 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:90793 OMIM:273250 ORPHA:251510 OMIM:300511 ORPHA:453533 OMIM:618187 OMIM:618086 OMIM:305400 OMIM:612310 ORPHA:572333 OMIM:229070 OMIM:301077 OMIM:618014 ORPHA:226307 OMIM:614842 OMIM:176400 OMIM:619613 OMIM:228300 OMIM:612885 OMIM:619938 OMIM:619755 OMIM:612965 OMIM:612964 OMIM:617253 OMIM:613986 ORPHA:95699 OMIM:618419 OMIM:619761 OMIM:614324 OMIM:614897 OMIM:619665 OMIM:400045 OMIM:400044 OMIM:615723 OMIM:619146 OMIM:619834
 

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