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Term:
Branchial Arch Syndrome X-Linked (DOID:9001319)
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Parent Terms Term With Siblings Child Terms
Hearing Loss +     
microcephaly +     
3p- syndrome 
Abruzzo Erickson Syndrome  
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Achromatopsia Incomplete, X-Linked 
acrofacial dysostosis Cincinnati type  
acrofacial dysostosis Rodriguez type 
acrofacial dysostosis, Catania type 
acrofacial dysostosis, Patagonia type 
acrofrontofacionasal dysostosis 
acromelic frontonasal dysostosis  
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Agammaglobulinemia, X-Linked, Type 2  
Aicardi syndrome 
AL-RAQAD SYNDROME  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alpha-Thalassemia Myelodysplasia Syndrome  
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 16 
Amish Lethal Microcephaly  
androgen insensitivity syndrome +   
Anencephaly and Spina Bifida X-Linked 
angioma serpiginosum +  
Anhidrotic Ectodermal Dysplasia 1 +   
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Aphalangia Syndactyly Microcephaly 
Arthrogryposis, X-Linked, Type V 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
Atypical Mycobacteriosis, Familial, X-Linked 1  
Atypical Mycobacteriosis, Familial, X-Linked 2  
autosomal dominant microcephaly +   
Baetz-Greenwalt syndrome 
Baraitser Brett Piesowicz Syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Behr Syndrome  
Bornholm Eye Disease 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Bresheck/Bresek Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
CAMFAK Syndrome 
camptodactyly-tall stature-scoliosis-hearing loss syndrome  
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiac Valvular Dysplasia, X-Linked  
cataract 40  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
CHILD Syndrome  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Choroideremia +   
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 6pter-p24 deletion syndrome 
chromosome Xp11.23-p11.22 duplication syndrome 
Chromosome Xq28 Duplication Syndrome 
CK Syndrome  
Cleft Palate with Ankyloglossia  
Cohen Syndrome  
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus  
combined T cell and B cell immunodeficiency +   
Conductive Hearing Loss +   
Cone Dystrophy, X-Linked, with Tapetal-like Sheen 
Cone-Rod Dystrophy and Hearing Loss +   
Congenital Adrenal Hypoplasia with Precocious Puberty  
Congenital Alopecia X-Linked 
Congenital Cataracts, Hearing Loss, and Neurodegeneration  
Congenital Heart Defects, X-Linked +   
congenital hypogammaglobulinemia 
Congenital Idiopathic Intestinal Pseudoobstruction  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
Congenital Ptosis, Hereditary 2 
Corpus Callosum, Partial Agenesis of, X-Linked  
Craniofacioskeletal Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Deafness +   
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
Deafness, Congenital Heart Defects, and Posterior Embryotoxon  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Unilateral, with Delayed Endolymphatic Hydrops  
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
Deafness-Craniofacial Syndrome 
deafness-intellectual disability, Martin-Probst type syndrome  
Diamond-Blackfan Anemia 14 with Mandibulofacial Dysostosis  
Diamond-Blackfan Anemia 15 with Mandibulofacial Dysostosis  
Dilated Cardiomyopathy 3A  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Distal Arthrogryposis Multiplex Congenita, X-Linked  
Dubowitz syndrome 
early infantile epileptic encephalopathy 8  
early infantile epileptic encephalopathy 9  
Early Onset Parkinsonism with Mental Retardation  
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2  
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epidermodysplasia Verruciformis, X-Linked 
Epilepsy, Hearing Loss, and Mental Retardation Syndrome  
Episodic Muscle Weakness, X-Linked 
Erythropoietic Protoporphyria, X-Linked Dominant  
External Ophthalmoplegia and Myopia 
Fabry disease +   
Familial Exudative Vitreoretinopathy, X-Linked Recessive  
Fara Chlupackova Syndrome 
favism  
Feingold syndrome +   
Fetal Akinesia Syndrome, X-Linked 
Fg Syndrome 5 
Filippi Syndrome  
Forsythe-Wakeling Syndrome 
Functional Hearing Loss 
Galloway-Mowat syndrome +   
glycogen storage disease VIII 
Goldenhar syndrome +   
GOMBO Syndrome 
Growth Deficiency and Mental Retardation with Facial Dysmorphism  
Hadziselimovic Syndrome 
Halal Syndrome 
Hearing Loss, Bilateral +   
Hearing Loss, Mixed Conductive-Sensorineural +  
Hearing Loss, Unilateral +   
Hersh Podruch Weisskopk Syndrome 
High-Frequency Hearing Loss  
Hodgkin Disease, X-Linked Pseudoautosomal 
Hoyeraal Hreidarsson Syndrome  
Hydrocephalus with Cerebellar Agenesis 
hypertelorism, microtia, facial clefting syndrome 
Hypertrichosis Congenital Generalized X-Linked 
Hypogammaglobulinemia, X-Linked  
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency  
Hypoparathyroidism, X-Linked 
Hypospadias 1, X-Linked  
Hypospadias 2, X-Linked  
Hypospadias-Mental Retardation Syndrome 
Idiopathic Short Stature, X-Linked  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
Intracranial Berry Aneurysm 5 
Iris Dysplasia Hypertelorism Deafness 
Isolated Microphthalmia with Coloboma 1 
Isolated Noncompaction of the Ventricular Myocardium +   
Jorgenson Lenz Syndrome 
Kat6a Syndrome  
Kaufman Oculocerebrofacial Syndrome  
Keipert Syndrome  
Keratosis Follicularis Spinulosa Decalvans, X-Linked  
LADD syndrome  
Lambotte Syndrome 
Leigh Syndrome, X-Linked  
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Linear Skin Defects with Multiple Congenital Anomalies 2  
Linear Skin Defects with Multiple Congenital Anomalies 3  
Lissencephaly 3 +   
Lissencephaly 4  
Lissencephaly 6, with Microcephaly  
Liver Glycogenosis, X-Linked, Type II 
Lowry Wood Syndrome 
MacDermot Winter Syndrome 
Macular Dystrophy, X-Linked +   
major affective disorder 2 
mandibulofacial dysostosis with alopecia  
Mandibulofacial Dysostosis with Mental Deficiency  
Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant 
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Membranoproliferative Glomerulonephritis, X-Linked 
MEND SYNDROME  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mental Retardation, X-Linked +   
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Cervical Spine Fusion Anomalies 
Microcephaly Deafness Syndrome 
Microcephaly Microcornea Syndrome Seemanova Type 
Microcephaly Microphthalmos Blindness 
Microcephaly Nonsyndromal 
Microcephaly Pontocerebellar Hypoplasia Dyskinesia 
Microcephaly Seizures Genital Hypoplasia 
Microcephaly Seizures Mental Retardation Heart Disorders 
Microcephaly Sparse Hair Mental Retardation Seizures 
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 
Microcephaly with Chorioretinopathy, Autosomal Dominant 
Microcephaly with Mental Retardation and Digital Anomalies  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly with Simplified Gyral Pattern 
Microcephaly with Spastic Quadriplegia  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS  
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs 
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microcephaly, Epilepsy, and Diabetes Syndrome  
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Deficiency, Seizures, and Brain Malformations  
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1   
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2  
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Capillary Malformation Syndrome  
Microcephaly-Micromelia Syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 7  
Microtia, Hearing Impairment, and Cleft Palate  
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midline Defects, X-Linked 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
Mowat-Wilson syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Pterygium Syndrome, X-Linked 
Myopathy, Reducing Body, X-Linked, Childhood-Onset  
Myopathy, Reducing Body, X-Linked, Early-Onset, Severe  
Myopia 1 
Myopia 13 
MYOPIA 26, X-LINKED, FEMALE-LIMITED  
Nager acrofacial dysostosis  
NEMO Mutation with Immunodeficiency 
Nephrogenic Syndrome of Inappropriate Antidiuresis  
Neu-Laxova syndrome 1  
Neural Tube Defects X-Linked 
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES  
Nijmegen Breakage Syndrome-Like Disorder  
Nystagmus 1, Congenital, X- Linked  
Nystagmus 5, Infantile Periodic Alternating 
Oculopalatocerebral Syndrome 
Opitz GBBB Syndrome, Type I  
Opitz Reynolds Fitzgerald syndrome 
Optic Atrophy 2 
Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant 
ornithine carbamoyltransferase deficiency  
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
ovarian dysgenesis 2  
Paine Syndrome 
Parkinson's Disease 12 
Partington Anderson Syndrome 
Patterson Stevenson Syndrome +   
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss  
Periventricular Nodular Heterotopia 4  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
PHGDH deficiency  
Phosphoglycerate Kinase 1 Deficiency  
porencephaly +   
postaxial acrofacial dysostosis  
Premature Ovarian Failure 2a  
primary microcephaly +   
Progressive Hearing Loss Stapes Fixation  
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
Progressive Muscular Dystrophy, Pectorodorsal 
Properdin Deficiency, Type II  
Properdin Deficiency, Type III  
Properdin Deficiency, X-Linked  
Prostate Cancer, Hereditary, X-Linked 1 
Prostate Cancer, Hereditary, X-Linked 2 
Proud Syndrome  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Radial Ray Deficiency, X-Linked 
Radiation Sensitivity of Natural Killer Activity 
Radius Absent Anogenital Anomalies 
Raine Syndrome  
Rajab Syndrome  
Reardon Wilson Cavanagh Syndrome 
Reticulate Pigmentary Disorder, with Systemic Manifestations  
Reticuloendotheliosis, X-Linked 
retinitis pigmentosa 2  
retinitis pigmentosa 24 
retinitis pigmentosa 3  
retinitis pigmentosa 34 
retinitis pigmentosa 6 
Richieri Costa Guion-Almeida Syndrome 
Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked  
Russell-Silver Syndrome, X-Linked 
Sammartino De Crecchio Syndrome 
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Secretory Diarrhea, Myopathy, and Deafness 
Seemanova Lesny Syndrome 
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME  
Selective Tooth Agenesis, X-Linked, 1  
sensorineural hearing loss +   
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Congenital Neutropenia, X-Linked  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Silengo Lerone Pelizza Syndrome 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY  
Spina Bifida, X-Linked 
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
Spinocerebellar Ataxia, X-Linked 1  
Spinocerebellar Ataxia, X-Linked 5 
Spinocerebellar Ataxia, X-Linked, 3 
split hand-foot malformation 2 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Spondyloepimetaphyseal Dysplasia, X-Linked  
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaphyseal Dysplasia, X-Linked 
Stromme syndrome  
Surfactant Metabolism Dysfunction, Pulmonary, 4  
syndromic X-linked intellectual disability Abidi type 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
Terminal Osseous Dysplasia and Pigmentary Defects  
Testicular Germ Cell Tumor 1 
Thrombocytopenia 1  
Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis  
Thrombocytosis, Familial X-Linked 
Thyroxine-Binding Globulin Deficiency +   
Torticollis Keloids Cryptorchidism Renal Dysplasia 
Total Anonychia with Microcephaly 
Treacher Collins syndrome +   
Trichodental Syndrome 
Tsukahara Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
VACTERL/VATER Association with Hydrocephalus  
Vasquez Hurst Sotos Syndrome 
Von Willebrand Disease, X-Linked Form 
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome 
Wells Jankovic Syndrome 
Winship Viljoen Leary Syndrome 
X Inactivation, Familial Skewed, 1  
X Inactivation, Familial Skewed, 2 
X-Linked Anemia with or without Neutropenia and/or Platelet Abnormalities  
X-Linked Anemia without Thrombocytopenia 
X-linked cleft palate with or without ankyloglossia  
X-linked cone-rod dystrophy 1  
X-linked cone-rod dystrophy 2 
X-linked congenital myopathy with fiber-type disproportion 
X-linked dilated cardiomyopathy  
X-linked distal spinal muscular atrophy 3  
X-linked dominant disease +   
X-Linked Epilepsy, with Variable Learning Disabilities and Behavior Disorders  
X-linked hereditary ataxia +   
X-Linked Hydrocephalus +   
X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein 
X-Linked Modifier for Neurofunctional Defects 
X-linked nonsyndromic deafness +   
X-Linked Panhypopituitarism  
X-linked recessive disease +   
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
X-Linked Tetra-Amelia 
X-Linked Thrombocytopenia, Intermittent  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  
X-Linked Thrombophilia, due to Factor IX Defect  
X-Linked Vesicoureteral Reflux 
Zerres Rietschel Majewski Syndrome 

Synonyms
Exact Synonyms: Mandibulofacial Dysostosis, Toriello Type
Primary IDs: MESH:C537102 ;   RDO:0002876

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