Ambiguous genitalia

Symptom Information:

Symptom ID: HPO:0000062
Synonyms:
Ambiguous external genitalia [HPO:0000062]
Ambiguous external genitalia at birth [HPO:0000062]
Ambiguous genitalia (disorder) [Orphanet:39020]
Ambiguous Genitalia [Orphanet:39020]
Ambiguous external genitalia [OMIM:Ambiguous external genitalia]
Ambiguous genitalia [OMIM:Ambiguous genitalia]
Ambiguous genitalia [Orphanet:39020]
Ambiguous genitalia (1 patient) [OMIM:Ambiguous genitalia (1 patient)]
Ambiguous genitalia (seen in patients with contiguous gene defect) [OMIM:Ambiguous genitalia (seen in patients with contiguous gene defect)]
Ambiguous genitalia. [OMIM:Ambiguous genitalia.]
Genitalia external ambiguous [MedDRA:10018183]
Quality:
Cross references:
Orphanet:39020 "Ambiguous genitalia" [Orphanet:39020]
OMIM: "Ambiguous external genitalia" [OMIM:Ambiguous external genitalia]
OMIM: "Ambiguous genitalia" [OMIM:Ambiguous genitalia]
OMIM: "Ambiguous genitalia (1 patient)" [OMIM:Ambiguous genitalia (1 patient)]
OMIM: "Ambiguous genitalia (seen in patients with contiguous gene defect)" [OMIM:Ambiguous genitalia (seen in patients with contiguous gene defect)]
OMIM: "Ambiguous genitalia." [OMIM:Ambiguous genitalia.]
UMLS:C0266362 "Ambiguous Genitalia" [Orphanet:39020]
Is a (Direct Parents):
Orphanet Structural anomalies of the genital system
HPO         Ovotestis
MedDRA Reproductive tract disorders congenital NEC
HPO         Abnormal external genitalia
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 external genitalia(HPO:0000811)
                   Ambiguous genitalia(HPO:0000062)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Reproductive tract and breast disorders congenital(MedDRA:10038608)
       Reproductive tract disorders congenital NEC(MedDRA:10038611)
          Ambiguous genitalia(HPO:0000062)
Database Frequency: 74 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microduplication syndrome (Orphanet:276422)
46,XX disorder of sex development - skeletal anomalies (Orphanet:2975)
46,XX ovotesticular disorder of sex development (Orphanet:2138)
46,XX testicular disorder of sex development (Orphanet:393)
46,XY SEX REVERSAL 9 (OMIM:616067)
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)
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency (Orphanet:90796)
46,XY partial gonadal dysgenesis (Orphanet:251510)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Ablepharon macrostomia syndrome (Orphanet:920)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Antecubital pterygium syndrome (Orphanet:2987)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Bartsocas-Papas syndrome (Orphanet:1234)
Beemer-Ertbruggen syndrome (Orphanet:1237)
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG (OMIM:218649)
Campomelic dysplasia (Orphanet:140)
Caudal regression sequence (Orphanet:3027)
Cloacal exstrophy (Orphanet:93929)
Cloverleaf skull - multiple congenital anomalies (Orphanet:93267)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency (Orphanet:90793)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (Orphanet:95699)
Congenital osteogenesis imperfecta - microcephaly - cataracts (Orphanet:2772)
Denys-Drash syndrome (Orphanet:220)
Desmosterolosis (Orphanet:35107)
Diabetic embryopathy (Orphanet:1926)
Distal monosomy 13q (Orphanet:1590)
Dysmorphism - short stature - deafness - disorder of sex development (Orphanet:2282)
Ehlers-Danlos syndrome due to tenascin-X deficiency (Orphanet:230839)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Fetal trimethadione syndrome (Orphanet:1913)
Filippi syndrome (Orphanet:3255)
Fraser syndrome (Orphanet:2052)
German syndrome (Orphanet:2077)
Holoprosencephaly - postaxial polydactyly (Orphanet:2166)
Joubert syndrome 15 (OMIM:614464)
LUTEINIZING HORMONE, BETA POLYPEPTIDE (OMIM:152780)
Limb body wall complex (Orphanet:2369)
MIDLINE MALFORMATIONS, MULTIPLE, WITH LIMB ABNORMALITIES AND HYPOPITUITARISM (OMIM:601016)
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 (OMIM:257300)
Meacham syndrome (Orphanet:3097)
Meckel syndrome (Orphanet:564)
Meckel syndrome, type 1 (OMIM:249000)
Meckel syndrome, type 9 (OMIM:614209)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Monosomy 9p (Orphanet:261112)
Mosaic variegated aneuploidy syndrome (Orphanet:1052)
Neu-Laxova syndrome (Orphanet:2671)
PAGOD syndrome (Orphanet:991)
PELVIS syndrome (Orphanet:83628)
Pelviscapular dysplasia (Orphanet:93333)
Pontocerebellar hypoplasia type 7 (Orphanet:284339)
SCARF syndrome (Orphanet:3134)
SHORT RIB-POLYDACTYLY SYNDROME, TYPE III (OMIM:263510)
Short rib-polydactyly syndrome, Beemer-Langer type (Orphanet:93268)
Short rib-polydactyly syndrome, Majewski type (Orphanet:93269)
Short rib-polydactyly syndrome, Verma-Naumoff type (Orphanet:93271)
Short-rib thoracic dysplasia 13 with or without polydactyly (OMIM:616300)
Short-rib thoracic dysplasia 3 with or without polydactyly (OMIM:613091)
Short-rib thoracic dysplasia 6 with or without polydactyly (OMIM:263520)
Short-rib thoracic dysplasia 8 with or without polydactyly (OMIM:615503)
Sirenomelia (Orphanet:3169)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Solitary median maxillary central incisor syndrome (Orphanet:2286)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE (OMIM:615542)
Testicular regression syndrome (Orphanet:983)
Triploidy (Orphanet:3376)
Trisomy 1q (Orphanet:261344)
VACTERL/VATER association (Orphanet:887)
Von Voss-Cherstvoy syndrome (Orphanet:3439)
WAGR syndrome (Orphanet:893)
X-linked lissencephaly with abnormal genitalia (Orphanet:452)