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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
neutropenia +     
physical disorder +     
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia +   
agnathia-otocephaly complex  
arthrogryposis multiplex congenita +   
autosomal dominant congenital deafness with onychodystrophy  
autosomal recessive congenital ichthyosis +   
bladder exstrophy-epispadias-cloacal exstrophy complex +   
blepharophimosis +   
caudal regression syndrome  
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia 
cleft palate-lateral synechia syndrome  
Compton-North congenital myopathy  
congenital adrenal hyperplasia +   
congenital adrenal insufficiency  
congenital afibrinogenemia +   
congenital amegakaryocytic thrombocytopenia +   
congenital aphakia  
congenital bilateral absence of vas deferens +   
congenital bile acid synthesis defect +   
congenital central hypoventilation syndrome +   
congenital chylothorax  
congenital contractural arachnodactyly  
congenital diaphragmatic hernia +   
congenital diarrhea +   
congenital disorder of glycosylation +   
congenital epulis 
congenital fibrosarcoma  
congenital fibrosis of the extraocular muscles +   
Congenital Foot Deformities +   
congenital generalized lipodystrophy +   
congenital granular cell tumor 
congenital heart block +   
congenital heart disease +   
congenital hemolytic anemia +   
congenital hereditary endothelial dystrophy of cornea  
congenital hypogammaglobulinemia 
congenital hypoplastic anemia +   
congenital hypothyroidism +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital intrinsic factor deficiency  
congenital lactase deficiency  
congenital leptin deficiency  
congenital megabladder  
congenital mesoblastic nephroma +   
congenital mirror movement disorder +   
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
congenital myopathy 4A +   
congenital nervous system abnormality +   
congenital nystagmus +   
congenital ptosis +   
congenital stationary night blindness +   
congenital stromal corneal dystrophy  
congenital structural myopathy +   
congenital sucrase-isomaltase deficiency  
congenital syphilis +  
congenital toxoplasmosis  
cryptophthalmia +   
cyclic hematopoiesis  
Drug-induced Neutropenia +   
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Febrile Neutropenia +   
gastroschisis +   
hypospadias +   
imperforate anus +   
Klippel-Feil syndrome +   
large congenital melanocytic nevus  
laryngomalacia +   
Lazy Leukocyte Syndrome  
Leber congenital amaurosis +   
lethal congenital contracture syndrome +   
lethal congenital glycogen storage disease of heart  
Lethal Congenital Neutropenia with Eosinophilia 
Lichtenstein Syndrome 
Meckel's diverticulum 
MLS syndrome +   
multiple congenital anomalies-hypotonia-seizures syndrome +   
myotonia congenita +   
neural tube defect +   
non-congenital cyst of kidney 
Nonimmune Chronic Idiopathic Neutropenia, Adult  
nonsyndromic congenital nail disorder +   
omphalocele  
Onychotrichodysplasia and Neutropenia 
orofacial cleft +   
palmoplantar keratoderma and congenital alopecia 1  
palmoplantar keratoderma and congenital alopecia 2 
poikiloderma with neutropenia  
Poland syndrome 
polydactyly +   
primary congenital glaucoma +   
radioulnar synostosis +   
rapidly involuting congenital hemangioma 
Severe Chronic Neutropenia  
severe congenital encephalopathy due to MECP2 mutation  
severe congenital neutropenia +   
A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)
Silver-Russell syndrome +   
spondyloepiphyseal dysplasia with congenital joint dislocations  
T-cell immunodeficiency, congenital alopecia, and nail dystrophy  
TORCH syndrome 
transient neonatal neutropenia +  
visceral heterotaxy +   
WHIM Syndrome +   
X-linked dyserythropoietic anemia  
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Zika virus congenital syndrome 

Synonyms
Exact Synonyms: congenital neutropenia ;   infantile genetic agranulocytosis ;   primary neutropenia ;   severe infantile genetic agranulocytosis ;   severe infantile genetic neutropenia
Xrefs: GARD:13592 ;   MIM:PS202700 ;   ORDO:42738 ;   ORDO:486 ;   ORDO:86788
Definition Sources: https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO" "DO"

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