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Ontology Browser

Term:
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations (DOID:9007742)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
Aase Smith Syndrome 
Abruzzo-Erickson syndrome  
acrocardiofacial syndrome 
Acromegaloid Facial Appearance Syndrome 
acromesomelic dysplasia-3  
acromicric dysplasia +   
Acropectoral Syndrome 
Adams-Oliver syndrome +   
ADULT syndrome  
agammaglobulinemia +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Alazami Syndrome  
Alazami-Yuan Syndrome  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport syndrome +   
AMME complex 
Antley-Bixler syndrome with disordered steroidogenesis  
Arachnodactyly +   
Arthrogryposis Multiplex Congenita Whistling Face 
Asymmetric Short Stature Syndrome 
Atelosteogenesis Type 3  
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
Au-Kline Syndrome  
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations  
Bagatelle Cassidy Syndrome 
Baker Vinters Syndrome 
Baraitser-Winter syndrome +   
Beaulieu-Boycott-Innes Syndrome  
Bifid or Double Ureter 
Birk-Barel syndrome  
Blepharochalasis and Double Lip 
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis, ptosis, and epicanthus inversus syndrome +   
brachydactyly +   
Brachymesomelia Renal Syndrome 
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 
Brachyolmia Type 1, Hobaek Type 
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia  
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
Calabro Syndrome 
Calvarial Hyperostosis +   
Camptobrachydactyly 
Camptodactyly Syndrome Guadalajara Type 2 
Cardiac-Urogenital Syndrome  
Cardioacrofacial Dysplasia +   
Cartwright Nelson Fryns Syndrome 
CEBALID Syndrome  
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
cerebrooculofacioskeletal syndrome 2  
cerebrooculofacioskeletal syndrome 4  
Cerebrooculonasal Syndrome 
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
CHILD syndrome  
CHITAYAT SYNDROME  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome  
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Cleidocranial Dysplasia 2  
CODAS syndrome  
combined oxidative phosphorylation deficiency 2  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital heart defects, dysmorphic facial features, and intellectual developmental disorder  
congenital hypogammaglobulinemia 
congenital limbs-face contractures-hypotonia-developmental delay syndrome  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
Congenital Upper Extremity Deformities +   
corpus callosum agenesis-abnormal genitalia syndrome  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
Costello syndrome  
Cousin Syndrome  
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Curly Hair-Acral Keratoderma-Caries Syndrome 
DeSanto-Shinawi syndrome  
Desbuquois dysplasia +   
Diaphanospondylodysostosis  
Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull 
diphthamide deficiency syndrome 1  
disorder of sexual development +   
distal arthrogryposis type 6 
Distal Transverse Limb Defects with Mental Retardation and Spasticity 
DK Phocomelia Syndrome 
DNA ligase IV deficiency  
Donohue syndrome  
DOORS syndrome  
Duker Weiss Siber syndrome 
ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
Ectrodactyly-Polydactyly 
Ectromelia +   
ENDOVE SYNDROME, LIMB-BRAIN TYPE  
Epispadias +   
Erosive Arthropathy 
EVEN-PLUS SYNDROME  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Feingold syndrome +   
fetal akinesia deformation sequence syndrome X-linked 
fetal encasement syndrome  
FG Syndrome 5 
Floating-Harbor syndrome  
Forebrain Defects  
Fountain Syndrome 
Fraser syndrome +   
Fraser-Like Syndrome 
Freire-Maia Odontotrichomelic Syndrome 
Fronto-Facio-Nasal Dysplasia 
frontonasal dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Fryns Syndrome  
Fused Kidney  
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
Genitopatellar Syndrome  
GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
Grubben de Cock Borghgraef Syndrome 
Hall Riggs Mental Retardation Syndrome 
Hand and Foot Deformity with Flat Facies 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
Heart Defects Limb Shortening 
Hecht Scott Syndrome 
Hengel-Maroofian-Schols syndrome  
Hennekam syndrome +   
holoprosencephaly +   
Humeroradial Synostosis with Craniofacial Anomalies 
hyperimmunoglobulin syndrome +   
Hypertelorism +   
hypochondroplasia  
Hypoglossia-Hypodactylia 
hypospadias +   
hypotonia-cystinuria syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
Ichthyosis Tapered Fingers Midline Groove Up 
IMAGe syndrome  
IMAGEI Syndrome  
immunodeficiency 61  
immunodeficiency 62  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
immunoglobulin alpha deficiency +   
immunoglobulin beta deficiency 
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis  
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
Juberg Hayward Syndrome  
Kaplan Plauchu Fitch Syndrome 
Kapur Toriello Syndrome  
Kaufman oculocerebrofacial syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 4  
Kosztolanyi Syndrome 
Kuster Syndrome 
lambda 5 deficiency 
Larsen-like syndrome B3GAT3 type  
Laryngeal Atresia, Encephalocele, and Limb Deformities 
Le Marec Bracq Picaud Syndrome 
Leichtman Wood Rohn Syndrome 
Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities 
Lethal Faciocardiomelic Dysplasia 
Limb-Mammary Syndrome  
linear skin defects with multiple congenital anomalies 2  
Loeys-Dietz syndrome +   
Lower Extremity Deformities, Congenital +   
Lynch Lee Murday syndrome 
Macrocephaly +   
Malformation of Arms 
Mandibuloacral Dysplasia Progeroid Syndrome  
mandibuloacral dysplasia type B lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
Marshall syndrome +   
Marshall-Smith syndrome  
Maxillofacial Abnormalities +   
Megalodactyly  
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation Spasticity Ectrodactyly 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mesomelia-Synostoses Syndrome 
Metaphyseal Anadysplasia +   
microcephaly +   
Microcephaly Seizures Genital Hypoplasia 
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Morillo-Cucci Passarge Syndrome 
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism 
Mullegama-Klein-Martinez syndrome  
Multicystic Dysplastic Kidney +   
Multiple Epiphyseal Dysplasia with Robin Phenotype 
Multiple Noduli Cutanei with Urinary Tract Abnormalities 
Multiple Pterygium Syndrome, X-Linked 
Multisystem Autoimmune Disease with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Myotubular Myopathy with Abnormal Genital Development 
Nablus Mask-Like Facial Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Neu-Laxova syndrome 1  
NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM  
Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects  
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME  
NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES  
Neurofaciodigitorenal Syndrome 
Nievergelt Syndrome 
Noonan syndrome +   
Noonan syndrome with multiple lentigines +   
Oculoauriculofrontonasal Syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Omphalocele Exstrophy Imperforate Anus 
Orbital Margin, Hypoplasia of 
orofaciodigital syndrome +   
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
Palant Cleft Palate Syndrome 
Pallister W Syndrome 
Pashayan Syndrome 
Penttinen-Aula Syndrome  
Peters plus syndrome  
Piepkorn Karp Hickok syndrome 
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
polydactyly +   
popliteal pterygium syndrome +   
postaxial acrofacial dysostosis  
Posterior Exchondrosis of Pinna 
Potato Nose 
Powell Chandra Saal Syndrome 
Preauricular Fistulae, Congenital 
Prieto syndrome  
Proteus syndrome +   
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pyelectasis 
Radial Ray Deficiency, X-Linked 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
rapadilino syndrome  
Reardon Hall Slaney syndrome 
renal agenesis +   
Renal Dysplasia - Limb Defects Syndrome 
Renal, Genital, and Middle Ear Anomalies 
Retrocaval Ureter 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
Ruzicka Goerz Anton syndrome 
Say Meyer Syndrome  
SCARF Syndrome 
Schaaf-Yang syndrome  
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome 
Schinzel Giedion syndrome  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
selective immunoglobulin deficiency disease +   
Sener Syndrome 
Short Stature and Facioauriculothoracic Malformations 
Short Stature and Microcephaly with Genital Anomalies  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies +   
SHORT STATURE-MICROGNATHIA SYNDROME  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
Sonoda Syndrome 
Splenogonadal Fusion with Limb Defects and Micrognathia 
split hand-foot malformation +   
Split-Foot Malformation with Mesoaxial Polydactyly  
Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects 
Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies 
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
Spondyloocular Syndrome, Autosomal Recessive  
Steinfeld Syndrome 
Stern Lubinsky Durrie Syndrome 
Stratton-Parker Syndrome 
Structural Heart Defects and Renal Anomalies Syndrome  
Sweeney-Cox syndrome  
syndactyly +   
syndactyly-telecanthus-anogenital and renal malformations syndrome  
syndromic microphthalmia 6  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disorder Lujan-Fryns-type  
Teebi hypertelorism syndrome +   
Teebi Shaltout Syndrome 
Telecanthus +   
Temtamy syndrome  
Tessadori-van Haaften Neurodevelopmental Syndrome 2  
Tetramelic Monodactyly 
Tetramelic Postaxial Oligodactyly 
Tetrasomy X 
thanatophoric dysplasia +   
Thoracic Dysplasia-Hydrocephalus Syndrome 
Thoraco Limb Dysplasia Rivera Type 
Thoracomelic Dysplasia 
Tollner Horst Manzke Syndrome 
trichodontoosseous syndrome  
Ulnar Hypoplasia with Mental Retardation 
Urinary Fistula +  
Urinary Tract Abnormalities +   
Urioste Martinez-Frias Syndrome 
Uterine Anomalies 
VACTERL association +   
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Weaver syndrome  
Weill-Marchesani Syndrome 3  
WEISS-KRUSZKA SYNDROME  
Weyers acrofacial dysostosis  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth syndrome  
Wright Dyck Syndrome 
X-linked lissencephaly 2  
Yunis-Varon syndrome  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: BILU Syndrome ;   Hoffman Syndrome
Primary IDs: MESH:C563745
Alternate IDs: OMIM:609296

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