Ontology Browser

Term:
WHIM syndrome (DOID:0060591)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Adrenocortical Hypofunction, Chronic Primary Congenital 
adrenocorticotropic hormone deficiency  
advanced sleep phase syndrome 1  
advanced sleep phase syndrome 2  
advanced sleep phase syndrome 3  
agammaglobulinemia +   
age related macular degeneration 8  
Alagille syndrome  
Alpha-2-Deficient Collagen Disease 
Alzheimer's disease 18  
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Anhidrotic Ectodermal Dysplasia with T-Cell Immunodeficiency, Autosomal Dominant  
anogenital venereal wart +   
Antibody Deficiency due to Defect in CD19 
AQUAPORIN 1 DEFICIENCY  
ataxia telangiectasia +   
ataxic cerebral palsy 
atrial heart septal defect 3  
atrial heart septal defect 4  
autoimmune lymphoproliferative syndrome +   
Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated  
B cell deficiency +   
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
brachydactyly type A1B 
brachydactyly type A1C  
brachydactyly type A1D  
brachydactyly type B1  
brachydactyly type B2  
brachydactyly type E1  
brachydactyly type E2  
Brugada syndrome +   
C1q Deficiency  
C9 Deficiency with Dermatomyositis 
CADASIL +   
CAKUT2  
CARD11 Immunodeficiency  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
cataract 1 multiple types  
cataract 10 multiple types  
cataract 11 multiple types +   
cataract 12 multiple types  
cataract 13 with adult i phenotype  
cataract 14 multiple types  
cataract 15 multiple types  
cataract 16 multiple types  
cataract 18  
cataract 2 multiple types  
cataract 20 multiple types  
cataract 21 multiple types  
cataract 23  
cataract 24 
cataract 25 
cataract 26 multiple types 
cataract 27  
cataract 28 
cataract 29 
cataract 3 multiple types  
cataract 30  
cataract 31 multiple types  
cataract 33  
cataract 36  
cataract 37 
cataract 38  
cataract 41  
cataract 43  
cataract 44  
cataract 45  
cataract 46 juvenile-onset  
cataract 5 multiple types  
cataract 7  
cataract 8 multiple types 
cataract 9 multiple types  
Cd4+ Lymphocyte Deficiency  
CD8 Deficiency, Familial  
Cenani-Lenz syndactyly syndrome  
CHARGE syndrome  
cherubism +   
chromosomal disease +   
cocoon syndrome  
COL4A1-related familial vascular leukoencephalopathy  
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA  
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Combined Inflammatory and Immunologic Defect 
combined T cell and B cell immunodeficiency +   
common variable immunodeficiency +   
complement component 9 deficiency  
complement deficiency +   
complement factor I deficiency  
complex cortical dysplasia with other brain malformations 1  
complex cortical dysplasia with other brain malformations 2  
complex cortical dysplasia with other brain malformations 3  
complex cortical dysplasia with other brain malformations 4  
complex cortical dysplasia with other brain malformations 5  
complex cortical dysplasia with other brain malformations 6  
complex cortical dysplasia with other brain malformations 7  
congenital amegakaryocytic thrombocytopenia  
congenital diarrhea +   
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
congenital hemolytic anemia +   
Congenital Hepatic Fibrosis  
congenital hypoplastic anemia +   
congenital hypotrichosis with juvenile macular dystrophy  
congenital muscular dystrophy +   
congenital myasthenic syndrome +   
Congenital Pain Insensitivity +   
cortical dysplasia-focal epilepsy syndrome  
corticosteroid-binding globulin deficiency  
cutaneous T cell lymphoma +   
Davenport Donlan Syndrome 
Deltaretrovirus Infections +   
desquamative interstitial pneumonia  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1BB  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1EE  
dilated cardiomyopathy 1FF  
dilated cardiomyopathy 1G  
dilated cardiomyopathy 1GG  
dilated cardiomyopathy 1H  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1I  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1J  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1K 
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1L  
dilated cardiomyopathy 1M  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1O  
dilated cardiomyopathy 1P  
dilated cardiomyopathy 1Q 
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1T  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1W  
dilated cardiomyopathy 1X  
dilated cardiomyopathy 1Y  
dilated cardiomyopathy 1Z  
dilated cardiomyopathy 2A  
dilated cardiomyopathy 2B  
distal myopathy 1  
Doyne honeycomb retinal dystrophy  
Dwarfism +   
dystonia 12  
dystonia 16  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 27  
dystonia 5  
dystonia 9  
EAST syndrome  
Endotoxin Hyporesponsiveness  
epidermodysplasia verruciformis +   
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
EVANS SYNDROME, IMMUNODEFICIENCY, AND PREMATURE IMMUNOSENESCENCE ASSOCIATED WITH TRIPEPTIDYL-PEPTIDASE II DEFICIENCY  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Familial Cirrhosis +   
familial cold autoinflammatory syndrome +   
Familial Dysalbuminemic Hyperthyroxinemia  
Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency 
Familial Hemophagocytic Lymphohistiocytoses +   
familial hypertrophic cardiomyopathy +   
familial hypocalciuric hypercalcemia 1  
Familial Lipochrome Histiocytosis 
Familial Mixed Cryoglobulinemia  
familial nephrotic syndrome +   
Familial Temporal Epilepsy +   
Fanconi-like syndrome  
fatal infantile hypertonic myofibrillar myopathy  
fibrodysplasia ossificans progressiva  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 6  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
focal segmental glomerulosclerosis 9  
FTDALS3  
FTDALS4  
Fuhrmann syndrome  
Genetic Skin Diseases +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
Goldberg-Shprintzen syndrome  
Greig cephalopolysyndactyly syndrome  
Griscelli syndrome +   
Hepatic Venoocclusive Disease with Immunodeficiency  
hereditary angioedema +   
Hereditary Epistaxis 
Hereditary Eye Diseases +   
hereditary lymphedema +   
Hereditary Neoplastic Syndromes +   
hereditary neutrophilia  
human immunodeficiency virus infectious disease +   
hyperekplexia 1  
hyperekplexia 2  
hyperekplexia 3  
hyperimmunoglobulin syndrome +   
hyperphosphatemia +   
Hypoglobulinemia and Absent B Cells 
hypogonadotropic hypogonadism 10 with or without anosmia  
hypogonadotropic hypogonadism 11 with or without anosmia  
hypogonadotropic hypogonadism 12 with or without anosmia  
hypogonadotropic hypogonadism 13 with or without anosmia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 22 with or without anosmia  
hypogonadotropic hypogonadism 23 with or without anosmia  
hypogonadotropic hypogonadism 24 without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 7 with or without anosmia  
hypogonadotropic hypogonadism 8 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypotrichosis 1  
hypotrichosis 10 
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis 6  
hypotrichosis 7  
hypotrichosis 8  
hypotrichosis 9 
IL21R Immunodeficiency  
Immune Deficiency Disease  
Immune Deficiency, Familial Variable 
IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS  
Immunodeficiency 12  
Immunodeficiency 14  
IMMUNODEFICIENCY 15A  
Immunodeficiency 15B  
Immunodeficiency 16  
Immunodeficiency 19  
Immunodeficiency 20  
Immunodeficiency 21  
Immunodeficiency 22  
Immunodeficiency 23  
IMMUNODEFICIENCY 24  
IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES  
Immunodeficiency 27B  
IMMUNODEFICIENCY 28  
IMMUNODEFICIENCY 29  
Immunodeficiency 30  
Immunodeficiency 31A  
IMMUNODEFICIENCY 31B  
IMMUNODEFICIENCY 31C  
Immunodeficiency 32A  
Immunodeficiency 32B  
Immunodeficiency 36  
Immunodeficiency 37  
Immunodeficiency 38, with Basal Ganglia Calcification  
Immunodeficiency 39  
Immunodeficiency 40  
Immunodeficiency 42  
Immunodeficiency 44  
Immunodeficiency 45  
Immunodeficiency 46  
Immunodeficiency 47  
Immunodeficiency 48  
Immunodeficiency 49  
Immunodeficiency 50  
Immunodeficiency 51  
Immunodeficiency 52  
Immunodeficiency 53  
Immunodeficiency 55  
Immunodeficiency 57  
Immunodeficiency 58  
Immunodeficiency 60 
Immunodeficiency due to Defect in CD3-Epsilon  
Immunodeficiency due to Defect in CD3-Gamma  
Immunodeficiency due to Defect in CD3-Zeta  
Immunodeficiency due to Defect in MAPBP-Interacting Protein  
Immunodeficiency due to Ficolin 3 Deficiency  
Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist 
Immunodeficiency without Anhidrotic Ectodermal Dysplasia  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis 
Immunodeficiency, Partial Combined, with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes 
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin beta deficiency 
IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY  
infantile histiocytoid cardiomyopathy  
inflammatory bowel disease 1  
inflammatory bowel disease 10  
inflammatory bowel disease 11 
inflammatory bowel disease 12  
inflammatory bowel disease 13  
inflammatory bowel disease 14  
inflammatory bowel disease 15 
inflammatory bowel disease 16  
inflammatory bowel disease 17  
inflammatory bowel disease 18 
inflammatory bowel disease 19  
inflammatory bowel disease 2 
inflammatory bowel disease 20 
inflammatory bowel disease 21 
inflammatory bowel disease 22 
inflammatory bowel disease 23 
inflammatory bowel disease 24 
inflammatory bowel disease 25  
inflammatory bowel disease 26 
inflammatory bowel disease 27 
inflammatory bowel disease 28  
inflammatory bowel disease 3 
inflammatory bowel disease 4 
inflammatory bowel disease 5  
inflammatory bowel disease 6 
inflammatory bowel disease 7 
inflammatory bowel disease 8 
inflammatory bowel disease 9 
inherited blood coagulation disease +   
inherited metabolic disorder +   
Inosine Phosphorylase Deficiency, Immune Defect Due To 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES  
Interleukin 2 Receptor, Alpha, Deficiency of  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
Invasive Pneumococcal Disease, Recurrent Isolated, 1  
Invasive Pneumococcal Disease, Recurrent Isolated, 2  
IRAK4 Deficiency  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 6  
Isolated Prolactin Deficiency 
Kallmann syndrome +   
Kartagener syndrome  
karyomegalic interstitial nephritis  
Kotzot-Richter Syndrome 
Kufor-Rakeb syndrome  
lambda 5 deficiency 
Laminopathies  
Lennox-Gastaut syndrome  
lethal congenital contracture syndrome 1  
lethal congenital contracture syndrome 2  
lethal congenital contracture syndrome 3  
lethal congenital contracture syndrome 4  
lethal restrictive dermopathy  
leukocyte adhesion deficiency +   
Lichtenstein Syndrome 
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME  
Lymphoblastic Transformation, Intrinsic Defect in 
Lymphoid System Deterioration, Progressive 
Lymphokine Deficiency 
lymphopenia +   
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis 
lymphoproliferative syndrome +   
lymphoproliferative syndrome 2  
Marfan syndrome +   
MASP2 Deficiency  
Miyoshi muscular dystrophy 1  
MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY  
monogenic disease +   
Muenke syndrome  
MYD88 Deficiency  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic dystonia 11  
myoclonic dystonia 26  
Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect  
nemaline myopathy 1  
nemaline myopathy 10  
nemaline myopathy 11  
nemaline myopathy 2  
nemaline myopathy 3  
nemaline myopathy 4  
nemaline myopathy 5  
nemaline myopathy 6  
nemaline myopathy 7  
nemaline myopathy 8  
nemaline myopathy 9  
NEMO Mutation with Immunodeficiency 
Nervous System Heredodegenerative Disorders +   
neurodegeneration with brain iron accumulation 2A  
neurodegeneration with brain iron accumulation 2B  
neurodegeneration with brain iron accumulation 3  
neurodegeneration with brain iron accumulation 4  
neurodegeneration with brain iron accumulation 6  
neurodevelopmental disorder with midbrain and hindbrain malformations  
neurogenic arthrogryposis multiplex congenita +   
Neutropenia, Nonimmune Chronic Idiopathic, Adult  
Neutrophil Immunodeficiency Syndrome  
Nezelof syndrome 
Noonan syndrome 10  
Norman-Roberts syndrome  
osteochondrodysplasia +   
Parotidomegaly, Hereditary Bilateral 
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Peters anomaly +   
Pfeiffer syndrome  
phagocyte bactericidal dysfunction +   
Pitt-Hopkins syndrome +   
platelet-type bleeding disorder 10  
poikiloderma with neutropenia  
polycystic kidney disease +   
postural orthostatic tachycardia syndrome  
primary autosomal recessive microcephaly +   
primary hypertrophic osteoarthropathy +   
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive familial intrahepatic cholestasis +   
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
prune belly syndrome +   
pulmonary alveolar microlithiasis  
RASopathies  
Rh deficiency syndrome  
Riddle syndrome  
right atrial isomerism  
Ritscher-Schinzel syndrome 1  
Roifman Syndrome  
Roifman-Chitayat Syndrome 
Sacral Agenesis with Vertebral Anomalies  
Saethre-Chotzen syndrome  
Schimke immuno-osseous dysplasia  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 13 
schizophrenia 14 
schizophrenia 15  
schizophrenia 16  
schizophrenia 18  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schizophrenia 9  
sclerosteosis 1  
sclerosteosis 2  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Sorsby's fundus dystrophy  
SOST-related sclerosing bone dysplasia  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 13  
spermatogenic failure 14  
spermatogenic failure 15  
spermatogenic failure 16  
spermatogenic failure 17  
spermatogenic failure 18  
spermatogenic failure 19  
spermatogenic failure 20  
spermatogenic failure 21  
spermatogenic failure 22  
spermatogenic failure 23  
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 5  
spermatogenic failure 6  
spermatogenic failure 7  
spermatogenic failure 8  
Splenic Hypoplasia  
split hand-foot malformation 1  
split hand-foot malformation 1 with sensorineural hearing loss  
split hand-foot malformation 4  
split hand-foot malformation 6  
spondylocarpotarsal synostosis syndrome  
squamous cell papilloma of skin 
subacute sclerosing panencephalitis +   
T cell deficiency +  
T Cell Immunodeficiency Primary  
T-Cell OKT4 Deficiency  
T-Cell Receptor-Alpha/Beta Deficiency  
Thumb Agenesis, Short Stature, and Immunodeficiency 
tibial muscular dystrophy  
torsion dystonia 17 
torsion dystonia 7  
Tuftsin Deficiency 
ulnar-mammary syndrome  
Warsaw breakage syndrome  
WHIM syndrome  
An immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. It has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
yellow nail syndrome +  

Synonyms
Exact Synonyms: WHIMS ;   warts, hypogammaglobulinemia, infections, and myelokathexis ;   warts, hypogammaglobulinemia, infections, and myelokathexis syndrome ;   warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Primary IDs: MESH:C536697
Alternate IDs: OMIM:193670 ;   RDO:0002350
Xrefs: GARD:9297
Definition Sources: https://en.wikipedia.org/wiki/WHIM_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/10767001

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.