Gonadal dysgenesis

Symptom Information:

Symptom ID: HPO:0000133
Synonyms:
Mixed gonadal dysgenesis [HPO:0000133]
Pure gonadal dysgenesis [HPO:0000133]
Gonadal dysgenesis (disorder) [Orphanet:39100]
Gonadal Dysgenesis [Orphanet:39100]
Gonadal dysgenesis [OMIM:Gonadal dysgenesis]
Pure gonadal dysgenesis [OMIM:Pure gonadal dysgenesis]
Mixed gonadal dysgenesis [Orphanet:39100]
Gonadal dysgenesis [Orphanet:39100]
Gonadal dysgenesis [MedDRA:10018504]
Gonadal dysgenesis NOS [MedDRA:10018504]
Quality:
Cross references:
Orphanet:39100 "Mixed gonadal dysgenesis" [Orphanet:39100]
OMIM: "Gonadal dysgenesis" [OMIM:Gonadal dysgenesis]
OMIM: "Pure gonadal dysgenesis" [OMIM:Pure gonadal dysgenesis]
UMLS:C0018051 "Gonadal Dysgenesis" [Orphanet:39100]
Is a (Direct Parents):
Orphanet Ambiguous genitalia
HPO         Abnormal internal genitalia
MedDRA Sex chromosomal abnormalities
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the genital system(HPO:0000078)
             Abnormal genital system morphology(HPO:0012243)
                Abnormal internal genitalia(HPO:0000812)
                   Gonadal dysgenesis(HPO:0000133)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Chromosomal abnormalities and abnormal gene carriers(MedDRA:10008804)
       Sex chromosomal abnormalities(MedDRA:10040453)
          Gonadal dysgenesis(HPO:0000133)
Database Frequency: 21 / 7739
Resource:

All diseases associated with this symptom:

46,XX gonadal dysgenesis (Orphanet:243)
46,XY SEX REVERSAL 1 (OMIM:400044)
46,XY SEX REVERSAL 3 (OMIM:612965)
46,XY SEX REVERSAL 7 (OMIM:233420)
46,XY complete gonadal dysgenesis (Orphanet:242)
46,XY gonadal dysgenesis - motor and sensory neuropathy (Orphanet:168563)
46,XY partial gonadal dysgenesis (Orphanet:251510)
Denys-Drash syndrome (Orphanet:220)
Frasier syndrome (Orphanet:347)
Gonadal dysgenesis, XY type - associated anomalies (Orphanet:1770)
Lung fibrosis - immunodeficiency - 46,XX gonadal dysgenesis (Orphanet:137631)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 10 (OMIM:615041)
Monosomy 18p (Orphanet:1598)
OVARIAN DYSGENESIS 1 (OMIM:233300)
Perrault Syndrome (Orphanet:2855)
Perrault Syndrome 1 (OMIM:233400)
Perrault Syndrome 2 (OMIM:614926)
Perrault Syndrome 3 (OMIM:614129)
Perrault Syndrome 4 (OMIM:615300)
Perrault Syndrome 5 (OMIM:616138)
Testicular teratoma (Orphanet:363483)