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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
abdominal wall malformation +  
angioosteohypertrophic syndrome 
ankyloblepharon filiforme-imperforate anus syndrome 
anotia 
Becker nevus syndrome +  
blindness - scoliosis - arachnodactyly syndrome 
bone fragility with contractures, arterial rupture, and deafness 
central nervous system malformation +  
cleft palate +  
congenital anomaly of kidney and urinary tract +  
congenital limb malformation +   
cutis laxa +  
cutis laxa - Marfanoid syndrome 
cysts and fistulae of the face and oral cavity +  
Desbuquois dysplasia +  
developmental anomaly of metabolic origin +  
developmental defect of the eye +   
digestive tract malformation +  
disorder of sexual differentiation +  
A congenital disorder characterized by abnormalities in the development of the sexual characteristics.
Ehlers-Danlos syndrome +  
facial cleft +  
focal dermal hypoplasia 
gonadoblastoma +  
hemihyperplasia-multiple lipomatosis syndrome 
hereditary hemorrhagic telangiectasia +  
hereditary neurocutaneous angioma 
hydrops fetalis +  
hypogonadism +  
infectious embryofetopathy +  
joint laxity, short stature, and myopia 
Larsen syndrome 
Legius syndrome 
lethal Larsen-like syndrome 
linear nevus sebaceous syndrome 
macroglossia +  
Maffucci syndrome 
marfanoid habitus-inguinal hernia-advanced bone age syndrome 
microtia 
multiple congenital anomalies/dysmorphic syndrome +   
neurofibromatosis type 1 +  
neurofibromatosis-Noonan syndrome +  
nevoid basal cell carcinoma syndrome 
ovarian disease +   
phakomatosis pigmentokeratotica 
phakomatosis pigmentovascularis +  
precocious puberty +   
progeroid syndrome +  
pseudodiastrophic dysplasia 
PTEN hamartoma tumor syndrome +  
schwannomatosis +  
testicular disease +   
toxic or drug-related embryofetopathy +  
TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations +  
urogenital tract malformation +   

Synonyms
Exact Synonyms: conditions affecting reproductive development ;   differences of sex development ;   disorder of sex development ;   disorder of sex differentiation ;   disorders of sex development ;   intersex ;   intersex conditions ;   sex differentiation disease ;   sex differentiation disorder ;   sexual differentiation disorder
Broad Synonyms: CARD ;   DSD
Related Synonyms: disorders of sex development (DSD)
Alternate IDs: MONDO:0002145
Xrefs: DOID:1923 ;   GTR:AN1172969 ;   MEDGEN:415936 ;   MESH:D012734 ;   MedDRA:10070597 ;   NANDO:2100140 ;   NCI:C103186 ;   ORDO:90771 ;   SCTID:39179006 ;   UMLS:C2930619
Definition Sources: NCIT:C103186

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