Scrotal hypoplasia

Symptom Information:

Symptom ID: HPO:0000046
Synonyms:
Hypoplastic scrotum [HPO:0000046]
Hypoplastic scrotum [Orphanet:39480]
Hypoplasia of scrotum (disorder) [Orphanet:39480]
Hypoplasia of scrotum [Orphanet:39480]
Hypoplastic scrotum [OMIM:Hypoplastic scrotum]
Scrotal hypoplasia [OMIM:Scrotal hypoplasia]
Hypoplastic scrotum/hemiscrotum/scrotal ridges [Orphanet:39480]
Reproductive tract hypoplasia, male [MedDRA:10057858]
Testicular hypoplasia [MedDRA:10057858]
Hypoplastic scrotum [MedDRA:10057858]
Testicular hypoplasia (1 patient) [OMIM:Testicular hypoplasia (1 patient)]
Hemiscrotum [Orphanet:39480]
Quality:
Cross references:
Orphanet:39480 "Hypoplastic scrotum/hemiscrotum/scrotal ridges" [Orphanet:39480]
OMIM: "Hypoplastic scrotum" [OMIM:Hypoplastic scrotum]
OMIM: "Scrotal hypoplasia" [OMIM:Scrotal hypoplasia]
OMIM: "Testicular hypoplasia (1 patient)" [OMIM:Testicular hypoplasia (1 patient)]
UMLS:C0431659 "Hypoplasia of scrotum" [Orphanet:39480]
Is a (Direct Parents):
Orphanet Abnormality of the scrotum
MedDRA Male reproductive tract disorders congenital
HPO         Hypoplastic male external genitalia
HPO         Abnormality of the scrotum
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)
                   External genital hypoplasia(HPO:0003241)
                      Hypoplastic male external genitalia(HPO:0000050)
                         Scrotal hypoplasia(HPO:0000046)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the scrotum(HPO:0000045)
                         Scrotal hypoplasia(HPO:0000046)
                      Hypoplastic male external genitalia(HPO:0000050)
                         Scrotal hypoplasia(HPO:0000046)
                Abnormality of the male genitalia(HPO:0010461)
                   Abnormality of male external genitalia(HPO:0000032)
                      Abnormality of the scrotum(HPO:0000045)
                         Scrotal hypoplasia(HPO:0000046)
                      Hypoplastic male external genitalia(HPO:0000050)
                         Scrotal hypoplasia(HPO:0000046)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Reproductive tract and breast disorders congenital(MedDRA:10038608)
       Male reproductive tract disorders congenital(MedDRA:10025517)
          Scrotal hypoplasia(HPO:0000046)
Database Frequency: 54 / 7739
Resource:

All diseases associated with this symptom:

14q22q23 microdeletion syndrome (Orphanet:264200)
1p36 deletion syndrome (Orphanet:1606)
46,XX ovotesticular disorder of sex development (Orphanet:2138)
46,XX testicular disorder of sex development (Orphanet:393)
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)
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS (OMIM:201750)
Arthrogryposis multiplex congenita (Orphanet:1037)
Autosomal dominant omodysplasia (Orphanet:93328)
Autosomal dominant popliteal pterygium syndrome (Orphanet:1300)
Autosomal recessive amelia (Orphanet:1027)
Autosomal recessive multiple pterygium syndrome (Orphanet:2990)
Blepharophimosis-intellectual deficit syndrome, MKB type (Orphanet:293707)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Borjeson-Forssman-Lehmann syndrome (Orphanet:127)
CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Carpenter-Waziri syndrome (Orphanet:93973)
Chudley-Lowry-Hoar syndrome (Orphanet:93971)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Distal monosomy 10q (Orphanet:96148)
Endocrine-cerebro-osteodysplasia syndrome (Orphanet:199332)
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation (Orphanet:1970)
Fine-Lubinsky syndrome (Orphanet:1272)
Flat face - microstomia - ear anomaly (Orphanet:1968)
Fraser syndrome (Orphanet:2052)
Frontonasal dysplasia with alopecia and genital anomaly (Orphanet:228390)
Genitopatellar syndrome (Orphanet:85201)
Holmes-Gang syndrome (Orphanet:93970)
Juberg-Marsidi syndrome (Orphanet:93972)
Laurence-Moon syndrome (Orphanet:2377)
MEIER-GORLIN SYNDROME 3 (OMIM:613803)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13 (OMIM:615287)
Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies (Orphanet:2234)
Malignant hyperthermia - arthrogryposis - torticollis (Orphanet:2215)
Phocomelia, Schinzel type (Orphanet:2879)
Prader-Willi syndrome (Orphanet:739)
Prominent glabella - microcephaly - hypogenitalism (Orphanet:2083)
Recombinant 8 syndrome (Orphanet:96167)
Renier-Gabreels-Jasper syndrome (Orphanet:93975)
STT3B-CDG (Orphanet:370924)
Schinzel-Giedion syndrome (Orphanet:798)
Smith-Fineman-Myers syndrome (Orphanet:93974)
Smith-Lemli-Opitz syndrome (Orphanet:818)
Sudden infant death - dysgenesis of the testes (Orphanet:168593)
Tel Hashomer camptodactyly syndrome (Orphanet:3292)
Treacher-Collins syndrome (Orphanet:861)
Trisomy 1q (Orphanet:261344)
WARBURG MICRO SYNDROME 2 (OMIM:614225)
WARBURG MICRO SYNDROME 3 (OMIM:614222)
WARBURG MICRO SYNDROME 4 (OMIM:615663)
X-linked intellectual deficit - cerebellar hypoplasia (Orphanet:137831)
X-linked intellectual deficit - hypotonic face (Orphanet:73220)
Zlotogora-Ogur syndrome (Orphanet:3253)