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Term:
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia (DOID:9008273)
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Parent Terms Term With Siblings Child Terms
agammaglobulinemia +     
arthritis +     
colitis +     
16Q24.3 Microdeletion Syndrome  
1q24 Deletion Syndrome  
22q11 Deletion Syndrome +   
3-methylglutaconic aciduria type 4 
3MC syndrome +   
3p deletion syndrome  
Aase Smith Syndrome 
ablepharon macrostomia syndrome  
Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies 
Achondroplasia and Swiss Type Agammaglobulinemia 
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate  
Adducted Thumbs Syndrome +   
adenosine deaminase deficiency  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
Adult-Onset Muscular Dystrophy with Leukoencephalopathy 
Agammaglobulinemia 1, Autosomal Recessive  
Agammaglobulinemia 10, Autosomal Dominant  
Agammaglobulinemia 2, Autosomal Recessive  
Agammaglobulinemia 3, Autosomal Recessive  
agammaglobulinemia 4  
agammaglobulinemia 5  
Agammaglobulinemia 6, Autosomal Recessive  
Agammaglobulinemia 7, Autosomal Recessive  
Agammaglobulinemia 8  
Agammaglobulinemia 9, Autosomal Recessive  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, non-Bruton type 
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Aksu von Stockhausen Syndrome 
Al Gazali Aziz Salem Syndrome 
Al Kaissi Syndrome  
Al-Gazali Syndrome  
Alagille syndrome  
Angelman syndrome  
Anisomastia 
Arboleda-Tham syndrome  
Arthrogryposis Epileptic Seizures Migrational Brain Disorder 
asphyxiating thoracic dystrophy +   
Aughton Syndrome 
Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 
Autoimmune Interstitial Lung, Joint, and Kidney Disease  
Autoinflammation with Arthritis and Dyskeratosis  
autosomal dominant non-syndromic intellectual disability 22  
autosomal recessive osteopetrosis 7  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axial Mesodermal Dysplasia Spectrum 
Bamforth-Lazarus syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Barth syndrome +   
Beckwith-Wiedemann syndrome +   
Ben Ari Shuper Mimouni Syndrome 
Beta-Hydroxyisobutyryl CoA Deacylase Deficiency  
Beta-Ureidopropionase Deficiency  
Bilateral Amastia with Ureteral Triplication and Dysmorphism 
bilateral perisylvian polymicrogyria +   
Birk-Landau-Perez Syndrome  
Blau syndrome  
Bloch-Sulzberger syndrome +   
Bowen Syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brachymesomelia Renal Syndrome 
brain small vessel disease 1  
Branchiogenic-Deafness Syndrome 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
Broad Terminal Phalanges, Familial 
Burnett Schwartz Berberian Syndrome  
Cardiac, Facial, and Digital Anomalies with Developmental Delay  
Carney complex +   
CATIFA Syndrome  
caudal regression syndrome  
Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy  
Cerebrofaciothoracic Dysplasia  
Cerebroretinal Microangiopathy with Calcifications and Cysts +   
Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction 
Char syndrome  
CHARGE syndrome  
chemical colitis  
Chemke Oliver Mallek Syndrome 
CHILD syndrome  
chondrocalcinosis +   
CHOPRA-AMIEL-GORDON SYNDROME  
CHOPS Syndrome  
chromosome 15q26-qter deletion syndrome  
chromosome 19q13.11 deletion syndrome  
chromosome 1q21.1 deletion syndrome  
chromosome 22q11.2 microduplication syndrome 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 5p13 duplication syndrome 
ciliopathy +   
CIMDAG SYNDROME  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Clostridium difficile colitis  
COACH syndrome +   
Cockayne syndrome +   
Coffin-Siris syndrome +   
combined oxidative phosphorylation deficiency 12  
Combined Pituitary Hormone Deficiency, 1  
Combined Pituitary Hormone Deficiency, 4  
common variable immunodeficiency +   
congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay  
Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE  
Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome 
congenital secretory sodium diarrhea 3  
Cornelia de Lange syndrome +   
Costello syndrome  
Costocoracoid Ligament Congenitally Short 
craniofacial-deafness-hand syndrome  
Craniofaciofrontodigital Syndrome 
Craniofacioskeletal Syndrome 
Craniomicromelic Syndrome 
Craniosynostosis Syndrome, Autosomal Recessive  
Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig 
Cree Mental Retardation Syndrome 
Cri-du-Chat syndrome +   
Crumpled Helices and Small Mouth 
Cryptomicrotia Brachydactyly Syndrome 
Cutaneous Photosensitivity and Colitis, Lethal 
Deaf-Blind Disorders +   
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
deafness, dystonia, and cerebral hypomyelination  
Deafness, Nephritis, Anorectal Malformation 
deafness-intellectual disability, Martin-Probst type syndrome  
DEEAH Syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Demyelinating Autoimmune Diseases, CNS +   
Desmosterolosis  
Devriendt syndrome 
Dincsoy Salih Patel Syndrome 
distal arthrogryposis type 7  
diversion colitis 
DK Phocomelia Syndrome 
Donohue syndrome  
Down syndrome +   
Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy +   
ectodermal dysplasia +   
Ectrodactyly Cardiopathy Dysmorphism 
Elliott Ludman Teebi Syndrome 
Ellis Yale Winter Syndrome 
Episodic Mitochondrial Myopathy with or without Optic Atrophy and Reversible Leukoencephalopathy  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Experimental Arthritis  
Experimental Colitis  
Facial Dysmorphism with Multiple Malformations +   
Facio Thoraco Genital Syndrome 
Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder 
Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities 
Feingold Trainer Syndrome 
Femur Bifid with Monodactylous Ectrodactyly 
Femur Fibula Ulna Syndrome 
fibrochondrogenesis +   
Filippi syndrome  
Fine-Lubinsky Syndrome 
Flat Umbilicus Familial 
Floating-Harbor syndrome  
Forney Robinson Pascoe Syndrome  
Fountain Syndrome 
Fraser Jequier Chen Syndrome 
Fraser syndrome +   
Frenkel Russe Syndrome 
Fried Goldberg Mundel Syndrome 
Gardner Morrisson Abbot Syndrome 
Gardner Syndrome +   
Gingival Fibromatosis with Hypertrichosis and Mental Retardation 
Glutamyl Ribose-5-Phosphate Storage Disease 
Gomez Lopez Hernandez Syndrome 
Gonadal Dysgenesis, XY Type, with Associated Anomalies 
Good syndrome 
Gorlin Chaudhry Moss Syndrome 
gout +   
Grant Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Guttmacher syndrome  
Hadziselimovic Syndrome 
Halal Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hereditary Central Nervous System Demyelinating Diseases +   
Hereditary Diffuse Leukoencephalopathy with Spheroids 2  
Hersh Podruch Weisskopk Syndrome 
Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly 
Histiocytic Dermatoarthritis 
Hittner Hirsch Kreh Syndrome  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly +   
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
Hordnes Engebretsen Knudtson syndrome 
Hunter-Macdonald Syndrome 
Hyperphosphatasia with Mental Retardation +   
Hypomelia Mullerian Duct Anomalies 
hypomyelinating leukoencephalopathy 
Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity  
hypoparathyroidism-retardation-dysmorphism syndrome  
HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES  
Hypotonia, Seizures, and Precocious Puberty 
ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES  
immunodeficiency 59  
INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES  
Insulin-Like Growth Factor I, Resistance To  
INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME  
Iris Dysplasia Hypertelorism Deafness 
ischemic colitis  
isolated growth hormone deficiency type III  
Isolated Noncompaction of the Ventricular Myocardium +   
Jequier Kozlowski Skeletal Dysplasia 
JOINT LAXITY, SHORT STATURE, AND MYOPIA  
Jung Wolff Back Stahl Syndrome 
Kabuki syndrome +   
Kapur Toriello Syndrome 
Kashani Strom Utley Syndrome 
Kasznica Carlson Coppedge Syndrome 
KBG syndrome  
Keppen-Lubinsky Syndrome  
Keratoconus Posticus Circumscriptus with Associated Malformations 
Keutel Syndrome  
Khalifa Graham Syndrome 
Kleiner Holmes Syndrome 
Koolen de Vries syndrome  
Kosaki Overgrowth Syndrome  
Kosztolanyi Syndrome 
Kozlowski Brown Hardwick Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Kyphomelic Dysplasia 
Labrune Syndrome  
LADD syndrome  
Larsen-Like Syndromes +   
lateral meningocele syndrome  
Laurence-Moon syndrome  
Laurin-Sandrow syndrome  
Le Marec Bracq Picaud Syndrome 
Lenz-Majewski hyperostotic dwarfism  
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Leukoencephalopathy with Ataxia  
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation  
Leukoencephalopathy with Dystonia and Motor Neuropathy  
leukoencephalopathy with vanishing white matter  
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia 
LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME  
Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
Light Fixation Seizure Syndrome 
linear nevus sebaceous syndrome +   
Loeys-Dietz syndrome +   
Lopes Gorlin Syndrome 
Lowry Maclean syndrome 
Lung Agenesis +   
Lutz Richner Landolt Syndrome 
Lymphedema, Cardiac Septal Defects, and Characteristic Facies 
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type 
Manouvrier Syndrome 
Marden-Walker Syndrome  
Marfan syndrome +   
Marles Greenberg Persaud Syndrome  
Marshall-Smith syndrome  
McDonough Syndrome 
McKusick-Kaufman syndrome  
McPherson Clemens Syndrome 
megacystis-microcolon-intestinal hypoperistalsis syndrome +   
Megalencephaly - Cutis Marmorata Telangiectatica Congenita  
Megarbane Jalkh Syndrome 
Megarbane Syndrome 
Mehes Syndrome 
Melhem Fahl Syndrome 
Menke-Hennekam Syndrome +   
Mental Retardation, Buenos Aires Type 
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mesomelia-Synostoses Syndrome 
Mesomelic Limb Shortening and Bowing 
Meyenburg-Altherr-Uehlinger Syndrome 
Michels Caskey Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microdontia Hypodontia Short Stature 
microscopic colitis +  
Microspherophakia with Hernia 
MIRAGE Syndrome  
MLS syndrome +   
Mobius syndrome +   
monilethrix +   
Morillo-Cucci Passarge Syndrome 
MORM Syndrome  
Mousa Al din Al Nassar Syndrome 
mucolipidosis II alpha/beta  
Mucopolysaccharidosis-Plus Syndrome  
Muller Barth Menger Syndrome 
multicentric reticulohistiocytosis 
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple congenital anomalies-hypotonia-seizures syndrome +   
MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED  
Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability  
multiple pterygium syndrome +   
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
Nasopalpebral Lipoma Coloboma Syndrome  
Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 
Negative Rheumatoid Factor Polyarthritis 
Netherton syndrome  
Neu-Laxova syndrome 1  
Neu-Laxova syndrome 2  
Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter  
NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES  
Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities  
Neurofaciodigitorenal Syndrome 
nevoid basal cell carcinoma syndrome +   
Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 
Noonan syndrome with multiple lentigines +   
Novak Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculocerebrorenal syndrome +   
Oculopalatocerebral Syndrome 
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Oculorenocerebellar Syndrome 
Ogden syndrome  
orofaciodigital syndrome +   
Oslam syndrome 
osteoarthritis +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pallister-Hall syndrome +   
Patterson Pseudoleprechaunism Syndrome 
Pelvis-Shoulder Dysplasia 
Penoscrotal Transposition  
Pentalogy of Cantrell 
periarthritis 
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pfeiffer Tietze Welte Syndrome 
Piepkorn Karp Hickok syndrome 
Pierson syndrome  
Pilotto Syndrome 
Podder-Tolmie Syndrome 
POEMS syndrome 
Pointer Syndrome 
polycystic kidney disease +   
Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant  
postaxial acrofacial dysostosis  
Posterior Leukoencephalopathy Syndrome  
Potocki-Lupski syndrome  
Powell Chandra Saal Syndrome 
Prader-Willi syndrome +   
Premature Aging, Okamoto Type 
Primrose Syndrome  
Proctocolitis  
Progressive Leukoencephalopathy, with Ovarian Failure  
progressive multifocal leukoencephalopathy  
prolidase deficiency  
Proteus syndrome +   
prune belly syndrome +   
Pseudoaminopterin Syndrome 
psoriatic arthritis  
Qazi Markouizos syndrome 
Radial Defect Robin Sequence 
Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias 
Radial Ray Hypoplasia Choanal Atresia 
Radio-Ulnar Synostosis Type 1 
Radio-Ulnar Synostosis Type 2 
Raine Syndrome  
Ramos Arroyo Clark Syndrome 
Renal Hypophosphatemia with Intracerebral Calcifications 
rheumatic fever +   
rheumatoid arthritis +   
RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES  
Ribose 5-Phosphate Isomerase Deficiency  
Ritscher-Schinzel syndrome +   
RNASET2-deficient cystic leukoencephalopathy  
Rozin Hertz Goodman Syndrome 
Rubella Syndrome, Congenital 
Rubinstein-Taybi syndrome +   
Rudiger Syndrome 
Ruvalcaba Syndrome 
Saal Bulas Syndrome 
Sackey Sakati Aur Syndrome 
Sacral Meningocele Conotruncal Heart Defects 
Sacroiliac Arthritis  
Sacroiliitis  
Samson Viljoen Syndrome 
Sanderson Fraser Syndrome 
Sandhaus Ben-Ami Syndrome 
Sao Paulo MCA/MR Syndrome 
SATB2-associated syndrome  
Say Barber Miller Syndrome 
Say Field Coldwell syndrome 
Say Meyer Syndrome  
Say Syndrome 
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schinzel-Giedion Syndrome  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
Seckel syndrome +   
Seemanova Lesny Syndrome 
Seow Najjar Syndrome 
septic arthritis +   
Sharma Kapoor Ramji Syndrome 
Shashi-Pena Syndrome  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Shprintzen Omphalocele Syndrome 
Siegler Brewer Carey Syndrome 
SIFRIM-HITZ-WEISS SYNDROME  
Silengo Lerone Pelizza Syndrome 
Silver-Russell syndrome +   
Simpson-Golabi-Behmel syndrome type 2  
Smith-Lemli-Opitz syndrome +   
Smith-Magenis syndrome +   
Sotos syndrome +   
spastic ataxia 3  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylarthritis +   
spondylocarpotarsal synostosis syndrome  
spondylocostal dysostosis 1  
Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium 
spondylometaphyseal dysplasia Megarbane-Dagher-Melike type  
Squalene Synthase Deficiency  
Stankiewicz-Isidor Syndrome  
Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features 
Stevenson-Carey Syndrome 
Stoelinga de Koomen Davis Syndrome 
SULEIMAN-EL-HATTAB SYNDROME  
Tamari Goodman Syndrome 
Teebi Hypertelorism Syndrome +   
Teebi Shaltout Syndrome 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Telencephalic Leukoencephalopathy 
tetraamelia syndrome +   
Thakker Donnai Syndrome 
Thomas Jewett Raines Syndrome 
Thomas Syndrome 
Thoracolaryngopelvic Dysplasia 
Thymic Aplasia with Fetal Death 
Tollner Horst Manzke Syndrome 
Townes-Brocks syndrome +   
transient arthritis +  
transient hypogammaglobulinemia +  
Tricho-Dento-Osseous Syndrome 1 
trichothiodystrophy +   
Triphalangeal Thumbs Brachyectrodactyly 
Trisomy 18-Like Syndrome 
Tsukahara Syndrome  
ulcerative colitis +   
ulnar-mammary syndrome  
Urioste Martinez-Frias Syndrome 
Urogenital Adysplasia 
Uropathy Distal Obstructive Polydactyly 
Uruguay faciocardiomusculoskeletal syndrome  
Van den Ende-Gupta syndrome  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Van Maldergem syndrome +   
vascular dementia +   
Velofacioskeletal Syndrome 
Verheij Syndrome  
Verloove-Vanhorick Brubakk Syndrome 
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral, Cardiac, Renal, and Limb Defects Syndromes +   
VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS  
visceral heterotaxy +   
Vohwinkel syndrome  
Waardenburg's syndrome +   
Walbaum Titran Durieux Crepin Syndrome 
Warburg micro syndrome +   
Weaver syndrome  
Weill-Marchesani syndrome +   
Weyers acrofacial dysostosis  
Weyers Ulnar Ray/Oligodactyly Syndrome 
White Forelock with Malformations 
Wiedemann Grosse Dibbern Syndrome 
Winchester syndrome  
Winter Harding Hyde Syndrome 
Wolf-Hirschhorn syndrome  
Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears 
WT Limb Blood Syndrome 
X-linked agammaglobulinemia +   
X-Linked Hypogammaglobulinemia  
X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy   
XK Aprosencephaly 
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
YOU-HOOVER-FONG SYNDROME  
Zadik Barak Levin Syndrome 
Zechi-Ceide Syndrome 
Zellweger syndrome +   
Zimmerman Laband Syndrome +   
ZTTK Syndrome  

Synonyms
Exact Synonyms: Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema
Primary IDs: MESH:C535888 ;   MESH:C563852 ;   RDO:0001245
Alternate IDs: RDO:0013002

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