Puberty and gonadal disorders
Symptom Information:
| Symptom ID: | HPO:0008373 | ||||
| Synonyms: |
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| Quality: | |||||
| Cross references: |
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| Is a (Direct Parents): |
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| Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the endocrine system(HPO:0000818) Puberty and gonadal disorders(HPO:0008373) MedDRA: |
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| Database Frequency: | 156 / 7739 | ||||
| Resource: |
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) |