Breast aplasia

Symptom Information:

Symptom ID: HPO:0100783
Synonyms:
Mammary gland aplasia [Orphanet:15440]
Congenital absence of breast (disorder) [Orphanet:15440]
Absence of breast (finding) [Orphanet:15440]
Congenital absence of breast [Orphanet:15440]
Breast aplasia [OMIM:Breast aplasia]
Breast tissue/mammary gland absence/aplasia [Orphanet:15440]
Breast absent [Orphanet:15440]
Amastia [MedDRA:10072717]
Breast absent [MedDRA:10072717]
Amastia [OMIM:Amastia]
Quality:
Cross references:
HPO:0003187 "Breast hypoplasia" [Orphanet:15440]
Orphanet:15440 "Breast tissue/mammary gland absence/aplasia" [Orphanet:15440]
OMIM: "Breast aplasia" [OMIM:Breast aplasia]
OMIM: "Amastia" [OMIM:Amastia]
UMLS:C0266009 "Congenital absence of breast" [Orphanet:15440]
UMLS:C0425775 "Absence of breast (finding)" [Orphanet:15440]
Is a (Direct Parents):
MedDRA Breast disorders NEC
HPO         Aplasia/Hypoplasia of the breasts
Orphanet Abnormality of the thorax
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the breast(HPO:0000769)
          Aplasia/Hypoplasia of the breasts(HPO:0010311)
             Breast aplasia(HPO:0100783)
MedDRA:
Reproductive system and breast disorders(MedDRA:10038604)
    Breast disorders(MedDRA:10006232)
       Breast disorders NEC(MedDRA:10040675)
          Breast aplasia(HPO:0100783)
Database Frequency: 19 / 7739
Resource:

All diseases associated with this symptom:

10q22.3q23.3 microdeletion syndrome (Orphanet:276413)
ADULT syndrome (Orphanet:978)
AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM (OMIM:104350)
AREDYLD syndrome (Orphanet:1133)
Ablepharon macrostomia syndrome (Orphanet:920)
Barber-Say syndrome (Orphanet:1231)
Becker nevus syndrome (Orphanet:64755)
Cockayne syndrome (Orphanet:191)
EEC syndrome (Orphanet:1896)
Ear-patella-short stature syndrome (Orphanet:2554)
Ectodermal dysplasia, tricho-odonto-onychial type (Orphanet:1818)
Hypohidrotic ectodermal dysplasia (Orphanet:238468)
Incontinentia pigmenti (Orphanet:464)
Kallmann syndrome (Orphanet:478)
Mandibuloacral dysplasia with type A lipodystrophy (Orphanet:90153)
Moebius syndrome (Orphanet:570)
Poland syndrome (Orphanet:2911)
Scalp-ear-nipple syndrome (Orphanet:2036)
Ulnar-mammary syndrome (Orphanet:3138)