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Term:
Secretory Diarrhea, Myopathy, and Deafness (DOID:9008535)
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Parent Terms Term With Siblings Child Terms
Deafness +     
Failure to Thrive +     
microcephaly +     
myopathy +     
secretory diarrhea +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
3p deletion syndrome  
Absence of Tibia with Congenital Deafness 
Absent Eyebrows and Eyelashes with Mental Retardation 
achalasia microcephaly syndrome 
Agammaglobulinemia, Microcephaly, and Severe Dermatitis 
Al-Raqad Syndrome  
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Albinism Deafness Syndrome 
Alcohol Myopathy  
Amish Lethal Microcephaly  
Aphalangia Syndactyly Microcephaly 
Arboleda-Tham syndrome  
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Asparagine Synthetase Deficiency  
Ataxia-Microcephaly-Cataract Syndrome 
autosomal dominant congenital deafness with onychodystrophy  
autosomal dominant microcephaly +   
autosomal dominant nonsyndromic deafness 65  
Ayazi Syndrome 
Baetz-Greenwalt Syndrome 
Baralle-Macken Syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Battaglia Neri Syndrome 
Beaulieu-Boycott-Innes Syndrome  
Boudhina Yedes Khiari syndrome 
Brachydactyly, Type A2, With Microcephaly 
Branchial Arch Syndrome X-Linked 
Branchiogenic-Deafness Syndrome 
Bullous Dystrophy, Hereditary Macular Type 
Burn-McKeown syndrome  
CAMFAK Syndrome 
Cardioauditory Syndrome of Sanchez Cascos 
cardiofaciocutaneous syndrome +   
Cardiofacioneurodevelopmental Syndrome  
Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome 
Christianson syndrome  
Chromosomal Instability with Tissue-Specific Radiosensitivity 
chromosome 15q26-qter deletion syndrome  
chromosome 17p13.1 deletion syndrome 
CK syndrome  
cleft palate, cardiac defects, and intellectual disabillity  
Cohen syndrome  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
congenital malabsorptive diarrhea 4  
Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 
congenital myopathy +   
Congenital Myopathy with Neuropathy and Deafness  
congenital secretory chloride diarrhea 1  
congenital secretory sodium diarrhea 3  
congenital secretory sodium diarrhea 8  
Coxoauricular Syndrome 
Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
Deafness Hyperuricemia Neurologic Ataxia 
Deafness with Anhidrotic Ectodermal Dysplasia 
Deafness, Autosomal Dominant, due to Mutation In Myo1a 
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY  
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY  
Deafness, with Smith-Magenis Syndrome  
Delayed Cranial Ossification due to CBFB Haploinsufficiency 
Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities  
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1  
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Dubowitz syndrome  
Edinburgh Malformation Syndrome 
Ellis Yale Winter Syndrome 
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Faundes-Banka Syndrome  
Feingold syndrome +   
FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES  
Filippi syndrome  
Fine-Lubinsky Syndrome  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Galloway-Mowat syndrome +   
Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency 
GOMBO Syndrome 
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Halal Syndrome 
hereditary spastic paraplegia 24 
Herrmann Syndrome 
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
high myopia-sensorineural deafness syndrome  
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hoyeraal Hreidarsson Syndrome  
Hyperlipoproteinemia Type II, and Deafness 
hypertelorism, microtia, facial clefting syndrome 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypogonadism with Low-Grade Mental Deficiency and Microcephaly 
Hypokalemic Tubulopathy and Deafness  
Hypospadias-Mental Retardation Syndrome 
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome  
Immunodeficiency 111  
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly  
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature  
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Jorgenson Lenz Syndrome 
Juberg Hayward Syndrome  
Kaufman oculocerebrofacial syndrome  
Keipert syndrome  
Keratitis-Ichthyosis-Deafness Syndrome +   
King Denborough syndrome  
Konigsmark Knox Hussels Syndrome 
Lambotte Syndrome 
LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA  
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS  
linear skin defects with multiple congenital anomalies 2  
lissencephaly 3 +   
lissencephaly 4  
lissencephaly 6  
Lowry Wood Syndrome  
Lynch Lee Murday syndrome 
MacDermot Winter Syndrome 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
mandibulofacial dysostosis, Guion-Almeida type  
Marfanoid Habitus with Microcephaly and Glomerulonephritis 
MEHMO syndrome  
Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly and Chorioretinopathy +   
Microcephaly Deafness Syndrome 
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 Cervical Spine Fusion Anomalies 
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, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME  
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 +   
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
Microcephaly, Macrotia, and Mental Retardation 
Microcephaly, Retinitis Pigmentosa, and Sutural Cataract 
microcephaly, seizures, and developmental delay  
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcephaly-Capillary Malformation Syndrome  
microcephaly-micromelia syndrome  
Microhydranencephaly  
Microphthalmia and Mental Deficiency 
Milner Khallouf Gibson Syndrome 
Mirhosseini-Holmes-Walton Syndrome 
mitochondrial myopathy +   
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Multiple Epiphyseal Dysplasia with Myopathy 
multiple synostoses syndrome 1  
muscular atrophy +   
muscular dystrophy +   
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Myoectodermal Gonadal Dysgenesis Syndrome  
myofascial pain syndrome +   
myofibrillar myopathy +   
myoglobinuria +   
Myopathy due to Malate-Aspartate Shuttle Defect 
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY  
myopathy of extraocular muscle +   
myopathy with extrapyramidal signs  
Myopathy with Giant Abnormal Mitochondria 
Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis  
Myopathy, Cataract, Hypogonadism Syndrome 
Myopathy, Epilepsy, and Progressive Cerebral Atrophy  
myositis +   
Myostitis 
Nabais Sa-de Vries Syndrome, Type 1  
Nathalie Syndrome 
Nephrosis with Deafness and Urinary Tract and Digital Malformations 
Neu-Laxova syndrome 1  
NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY  
NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY  
Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES  
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities  
Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment  
Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity  
Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities  
Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS  
Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies  
Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities  
neurogenic scapuloperoneal syndrome Kaeser type  
Neutral Lipid Storage Disease with Myopathy  
Nijmegen Breakage Syndrome-Like Disorder  
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
Oculopalatocerebral Syndrome 
Oculopharyngeal Myopathy with Leukoencephalopathy 1  
Opticocochleodentate Degeneration 
Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts 
pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures  
Paine Syndrome 
Partington Anderson Syndrome 
Perrault syndrome +   
PHGDH deficiency  
polymyalgia rheumatica  
porencephaly +   
primary microcephaly +   
Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy  
PSAT deficiency  
pseudo-TORCH syndrome 1  
Raine Syndrome  
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramos Arroyo Clark Syndrome 
Reducing Body Myopathies +   
rhabdomyolysis-myalgia syndrome 
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Sammartino De Crecchio Syndrome 
Sarcoplasmic Body Myopathy  
Say Barber Miller Syndrome 
Say Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote 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  
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects 
Short Stature and Microcephaly with Genital Anomalies  
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
Siddiqi syndrome  
Silengo Lerone Pelizza Syndrome 
Sinoatrial Node Dysfunction and Deafness  
spastic paraplegia with deafness 
Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal 
spastic tetraplegia, thin corpus callosum, and progressive microcephaly  
Spinal Muscular Atrophy with Microcephaly and Mental Subnormality 
spondyloepimetaphyseal dysplasia, Genevieve-type  
Stromme syndrome  
syndromic microphthalmia 13  
syndromic microphthalmia 8 
syndromic X-linked intellectual disability Najm type  
syndromic X-linked intellectual disability Shrimpton type 
Teebi Kaurah Syndrome 
temtamy preaxial brachydactyly syndrome  
Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1  
Tietz syndrome  
Total Anonychia with Microcephaly 
Trichodental Syndrome 
Tsukahara Syndrome  
Tubular Aggregate Myopathies +   
Warburg micro syndrome +   
Warburton Anyane Yeboa Syndrome  
Webb-Dattani Syndrome  
Wiedemann-Steiner syndrome  
Winship Viljoen Leary Syndrome 
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-linked mental retardation Gustavson type  
X-linked mental retardation-hypotonic facies syndrome-1  
X-linked myopathy with excessive autophagy  
X-linked retinitis pigmentosa and sinorespiratory infections  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Zaki syndrome  
Zerres Rietschel Majewski Syndrome 

Synonyms
Primary IDs: MESH:C564382
Alternate IDs: MIM:607540

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