Puberty and gonadal disorders

Symptom Information:

Symptom ID: HPO:0008373
Cross references:
Is a (Direct Parents):
HPO         Abnormal serum testosterone level
HPO         Abnormality of the endocrine system
Is a (Whole tree): HPO:
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the endocrine system(HPO:0000818)
          Puberty and gonadal disorders(HPO:0008373)
Database Frequency: 156 / 7739

All diseases associated with this symptom:

15q24 microdeletion syndrome (Orphanet:94065)
17q21.31 microduplication syndrome (Orphanet:217340)
1p36 deletion syndrome (Orphanet:1606)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
2p21 microdeletion syndrome (Orphanet:163693)
46,XX gonadal dysgenesis (Orphanet:243)
46,XX testicular disorder of sex development (Orphanet:393)
46,XY complete gonadal dysgenesis (Orphanet:242)
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency (Orphanet:752)
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency (Orphanet:753)
48,XXXY syndrome (Orphanet:96263)
49,XXXXY syndrome (Orphanet:96264)
8p11.2 deletion syndrome (Orphanet:251066)
8q22.1 microdeletion syndrome (Orphanet:178303)
ALG1-CDG (Orphanet:79327)
Absent thumb - short stature - immunodeficiency (Orphanet:2951)
Acrodysostosis (Orphanet:950)
Acroosteolysis, dominant type (Orphanet:955)
Aicardi syndrome (Orphanet:50)
Alagille syndrome (Orphanet:52)
Alopecia - intellectual deficit - hypergonadotropic hypogonadism (Orphanet:1014)
Alopecia-intellectual deficit syndrome (Orphanet:2850)
Androgen insensitivity syndrome (Orphanet:754)
Arachnodactyly - intellectual deficit - dysmorphism (Orphanet:1130)
Aromatase deficiency (Orphanet:91)
Arrhinia - choanal atresia - microphthalmia (Orphanet:1135)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Ataxia-telangiectasia (Orphanet:100)
Autoimmune polyendocrinopathy type 2 (Orphanet:3143)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Beta-thalassemia (Orphanet:848)
Beta-thalassemia major (Orphanet:231214)
Blackfan-Diamond anemia (Orphanet:124)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
Brachydactyly - nystagmus - cerebellar ataxia (Orphanet:1246)
Brachytelephalangy - dysmorphism - Kallmann syndrome (Orphanet:1295)
Bullous dystrophy, macular type (Orphanet:1867)
CEDNIK syndrome (Orphanet:66631)
CHARGE syndrome (Orphanet:138)
COFS syndrome (Orphanet:1466)
Cabezas syndrome (Orphanet:85293)
Camurati-Engelmann disease (Orphanet:1328)
Cardiofaciocutaneous syndrome (Orphanet:1340)
Cataract - deafness - hypogonadism (Orphanet:1383)
Cataract - intellectual deficit - hypogonadism (Orphanet:1387)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cohen syndrome (Orphanet:193)
Conductive deafness - malformed external ear (Orphanet:3216)
Congenital cataracts - facial dysmorphism - neuropathy (Orphanet:48431)
Congenital disorder of glycosylation (Orphanet:137)
Congenital hypothyroidism (Orphanet:442)
Congenital hypothyroidism due to developmental anomaly (Orphanet:95711)
Congenital muscular dystrophy - infantile cataract - hypogonadism (Orphanet:1875)
Cornelia de Lange syndrome (Orphanet:199)
Crandall syndrome (Orphanet:202)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome (Orphanet:2229)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Ectodermal dysplasia, Berlin type (Orphanet:1816)
Epiphyseal dysplasia - hearing loss - dysmorphism (Orphanet:1825)
Erdheim-Chester disease (Orphanet:35687)
Erythrokeratodermia variabilis (Orphanet:317)
Fabry disease (Orphanet:324)
Familial cutaneous collagenoma (Orphanet:53296)
Fanconi anemia (Orphanet:84)
Frasier syndrome (Orphanet:347)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
GAPO syndrome (Orphanet:2067)
Galactosemia (Orphanet:352)
Gaucher disease (Orphanet:355)
Gaucher disease type 1 (Orphanet:77259)
Gemignani syndrome (Orphanet:2074)
Gorlin syndrome (Orphanet:377)
Growth hormone insensitivity syndrome (Orphanet:181393)
Hennekam syndrome (Orphanet:2136)
Hernandez-Aguirre Negrete syndrome (Orphanet:2139)
Hutchinson-Gilford progeria syndrome (Orphanet:740)
Hydrocephalus - obesity - hypogonadism (Orphanet:2183)
Hypergonadotropic hypogonadism - cataract syndrome (Orphanet:2410)
Hypogonadism - mitral valve prolapse - intellectual deficit (Orphanet:2233)
Hypogonadotropic hypogonadism - frontoparietal alopecia (Orphanet:2230)
Hypogonadotropic hypogonadism - retinitis pigmentosa (Orphanet:2235)
Hypomyelination - hypogonadotropic hypogonadism - hypodontia (Orphanet:88637)
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism (Orphanet:2250)
IMAGe syndrome (Orphanet:85173)
Intellectual deficit - balding - patella luxation - acromicria (Orphanet:3041)
Intellectual deficit - cataracts - calcified pinnae - myopathy (Orphanet:3042)
Intellectual deficit - dysmorphism - hypogonadism - diabetes mellitus (Orphanet:3044)
Intellectual deficit - myopathy - short stature - endocrine defect (Orphanet:3068)
Intellectual deficit, X-linked - hypogonadism - ichthyosis - obesity - short stature (Orphanet:85331)
Intellectual deficit, X-linked, Miles-Carpenter type (Orphanet:85283)
Kallmann syndrome (Orphanet:478)
Kallmann syndrome - heart disease (Orphanet:2326)
Keratoderma hereditarium mutilans (Orphanet:494)
Laron syndrome (Orphanet:633)
Lenz-Majewski hyperostotic dwarfism (Orphanet:2658)
MEHMO syndrome (Orphanet:85282)
MURCS association (Orphanet:2578)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Mandibuloacral dysplasia with type B lipodystrophy (Orphanet:90154)
Marinesco-Sjögren syndrome (Orphanet:559)
Micro syndrome (Orphanet:2510)
Microcephaly-microcornea syndrome, Seemanova type (Orphanet:2528)
Mikati-Najjar-Sahli syndrome (Orphanet:2558)
Moebius syndrome (Orphanet:570)
Moynahan syndrome (Orphanet:2574)
Muckle-Wells syndrome (Orphanet:575)
Multiple non-ossifying fibromatosis (Orphanet:2029)
Myhre syndrome (Orphanet:2588)
Nephrogenic diabetes insipidus - intracranial calcification (Orphanet:3145)
Neu-Laxova syndrome (Orphanet:2671)
Neuroectodermal syndrome, Johnson type (Orphanet:2316)
Neuroectodermal-endocrine syndrome (Orphanet:2676)
Neurologic Waardenburg-Shah syndrome (Orphanet:163746)
Nonacquired combined pituitary hormone deficiency with spine abnormalities (Orphanet:231720)
Noonan syndrome (Orphanet:648)
Norrie disease (Orphanet:649)
Oculocerebrorenal syndrome (Orphanet:534)
Odontotrichomelic syndrome (Orphanet:2723)
PAGOD syndrome (Orphanet:991)
POEMS syndrome (Orphanet:2905)
Pentasomy X (Orphanet:11)
Perrault Syndrome (Orphanet:2855)
Pituitary stalk interruption syndrome (Orphanet:95496)
Prader-Willi syndrome (Orphanet:739)
Primary hypergonadotropic hypogonadism - partial alopecia (Orphanet:2232)
Primary pigmented nodular adrenocortical disease (Orphanet:189439)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Recessive dystrophic epidermolysis bullosa-generalized other (Orphanet:89842)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Riboflavin transporter deficiency (Orphanet:97229)
Richards-Rundle syndrome (Orphanet:1399)
Rothmund-Thomson syndrome (Orphanet:2909)
Rothmund-Thomson syndrome type 2 (Orphanet:221016)
Ruvalcaba syndrome (Orphanet:3121)
Say-Barber-Miller syndrome (Orphanet:3132)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Short stature - craniofacial anomalies - genital hypoplasia (Orphanet:2994)
Smith-Magenis syndrome (Orphanet:819)
Spastic paraparesis - deafness (Orphanet:2815)
Syndromic X-linked ichthyosis (Orphanet:281090)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
Testicular regression syndrome (Orphanet:983)
Townes-Brocks syndrome (Orphanet:857)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Turner syndrome (Orphanet:881)
Ulnar-mammary syndrome (Orphanet:3138)
Urban-Rogers-Meyer syndrome (Orphanet:3409)
Williams syndrome (Orphanet:904)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
XK aprosencephaly (Orphanet:3469)
Xeroderma pigmentosum (Orphanet:910)
Xp22.3 microdeletion syndrome (Orphanet:1643)
Xq27.3q28 duplication syndrome (Orphanet:261483)
Zlotogora-Ogur syndrome (Orphanet:3253)