Ontology Browser

Term:
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS (DOID:9000714)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
Albinism +     
coloboma +     
Deafness +     
Macrocephaly +     
microphthalmia +     
osteopetrosis +     
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome  
Adams Nance Syndrome 
Albinism Deafness Syndrome 
Alsing Syndrome 
Anhidrotic Ectodermal Dysplasia with Immunodeficiency, Osteopetrosis, and Lymphedema  
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arhinia, Choanal Atresia, and Microphthalmia  
Arima Syndrome 
Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 
Aughton Syndrome 
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant nonsyndromic deafness 65  
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant osteopetrosis 3  
autosomal recessive osteopetrosis 1  
autosomal recessive osteopetrosis 2  
autosomal recessive osteopetrosis 3  
autosomal recessive osteopetrosis 4  
autosomal recessive osteopetrosis 5  
autosomal recessive osteopetrosis 6  
autosomal recessive osteopetrosis 7  
autosomal recessive osteopetrosis 8  
Ayazi Syndrome 
Bagatelle Cassidy syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Behrens Baumann Dust Syndrome 
Benign Familial Macrocephaly 
Biemond Syndrome II 
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Branchiogenic-Deafness Syndrome 
Burn-Mckeown Syndrome  
Calloso-Genital Dysplasia 
Cardioauditory Syndrome of Sanchez Cascos 
cataract 40  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
Charcot-Marie-Tooth disease type 1E  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 1q21.1 deletion syndrome  
COACH Syndrome  
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
coloboma of optic nerve  
Coloboma, Cleft Lip/Palate and Mental Retardation Syndrome 
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Congenital Deafness and Familial Myoclonic Epilepsy 
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
Congenital Deafness, with Vitiligo and Achalasia 
Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 
Congenital Myopathy with Neuropathy and Deafness  
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Coxoauricular Syndrome 
Davenport Donlan Syndrome 
Deaf-Blind Disorders +   
DEAFNESS AND MYOPIA  
Deafness Hyperuricemia Neurologic Ataxia 
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 
Deafness, Congenital Onychodystrophy, Recessive Form 
Deafness, Nonsyndromic, Modifier 1  
Deafness, with Smith-Magenis Syndrome  
Deafness, X-Linked 6  
Deafness, Y-Linked 1 
Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 
Duker Weiss Siber syndrome 
Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly 
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 
Fine-Lubinsky Syndrome 
Fountain Syndrome 
Frontonasal Dysplasia 3  
Fryns Macrocephaly 
Ghose Sachdev Kumar Syndrome 
GOMBO Syndrome 
HEART AND BRAIN MALFORMATION SYNDROME  
Hemimegalencephaly +   
Hereditary Macular Coloboma  
hereditary spastic paraplegia 24 
Hermansky-Pudlak syndrome 1  
Herrmann Syndrome 
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 
Hittner Hirsch Kreh Syndrome 
Holoprosencephaly 10 
Hyperlipoproteinemia Type II, and Deafness 
HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
Ichthyosiform Erythroderma, Corneal Involvement, Deafness 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY  
isolated microphthalmia 1  
isolated microphthalmia 2  
isolated microphthalmia 3  
isolated microphthalmia 4  
isolated microphthalmia 5  
isolated microphthalmia 6  
isolated microphthalmia 7  
isolated microphthalmia 8  
Isolated Microphthalmia with Cataract 1 
Isolated Microphthalmia with Cataract 2  
Isolated Microphthalmia with Cataract 3  
Isolated Microphthalmia with Cataract 4 
Isolated Microphthalmia with Coloboma +   
Isolated Microphthalmia with Corectopia 
ITM2B-related cerebral amyloid angiopathy 2  
Johnson Neuroectodermal Syndrome 
Jones Syndrome 
Kahrizi syndrome  
Kaplowitz Bodurtha syndrome 
Kniest Like Dysplasia Lethal 
Konigsmark Knox Hussels Syndrome 
Luscan-Lumish syndrome  
Lynch Lee Murday syndrome 
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis  
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION  
macrocephaly-autism syndrome  
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Macrosomia with Lethal Microphthalmia 
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome  
Marles Greenberg Persaud Syndrome  
Matthew-Wood syndrome  
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Megalencephaly Cutis Marmorata Telangiectatica Congenita  
Megalencephaly with Dysmyelination 
Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, X-Linked 93  
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1  
Meyenburg-Altherr-Uehlinger Syndrome 
Microcephaly Albinism Digital Anomalies Syndrome 
Microcephaly Deafness Syndrome 
Microcephaly Microphthalmos Blindness 
Microcephaly, Microphthalmia, Ectrodactyly of Lower Limbs, and Prognathism  
Microcornea Corectopia Macular Hypoplasia 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
Microgastria Limb Reduction Defect 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Microphthalmia, Cataracts, and Iris Abnormalities  
Microphthalmia, Syndromic 1  
Microphthalmia, Syndromic 10 
Microphthalmia, Syndromic 11  
Microphthalmia, Syndromic 12  
Microphthalmia, Syndromic 13  
Microphthalmia, Syndromic 2  
Microphthalmia, Syndromic 3  
Microphthalmia, Syndromic 4 
Microphthalmia, Syndromic 5  
Microphthalmia, Syndromic 6  
Microphthalmia, Syndromic 7  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
Muckle-Wells syndrome  
Multiple Synostoses Syndrome 1  
Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 
Myoclonus, Cerebellar Ataxia, and Deafness 
Nanophthalmos 1 
Nanophthalmos 2  
Nanophthalmos 3 
Nanophthalmos 4  
Nasodigitoacoustic Syndrome  
Nasopalpebral Lipoma Coloboma Syndrome  
Nathalie Syndrome 
Nephrosis Deafness Urinary Tract Digital Malformation 
Neuhauser Syndrome 
Noninsulin-Dependent Diabetes Mellitus with Deafness  
nonsyndromic deafness +   
ocular albinism +   
oculocutaneous albinism +   
Oculodentoosseous Dysplasia Recessive 
Opticocochleodentate Degeneration 
Osteopetrosis and Infantile Neuroaxonal Dystrophy 
Osteopetrosis Lethal 
Otodental Dysplasia 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Perrault syndrome +   
Perrault Syndrome 3  
Pfeiffer Mayer Syndrome 
piebaldism +   
Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy  
Ramos Arroyo Clark Syndrome 
renal coloboma syndrome  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Ribbonlike Corneal Degeneration with Deafness 
Richards-Rundle Syndrome 
Roy Maroteaux Kremp Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
Schlegelberger Grote Syndrome 
Secretory Diarrhea, Myopathy, and Deafness 
SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME  
Sinoatrial Node Dysfunction and Deafness  
Snijders Blok-Campeau Syndrome  
syndromic X-linked intellectual disability Turner type  
Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria 
temtamy preaxial brachydactyly syndrome  
Temtamy Syndrome  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Thomas Jewett Raines Syndrome 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tibia, Absence of, with Congenital Deafness 
Tietz syndrome  
Uveal Coloboma, with Cleft Lip and Palate and Mental Retardation  
VACTERL/VATER Association with Hydrocephalus  
Wells Jankovic Syndrome 
Whyte Murphy Fallon Sly syndrome 
Worth's syndrome  
Wright Dyck Syndrome 
X-linked Alport syndrome  
X-Linked Mental Retardation Gustavson Type 
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness  
Yemenite Deaf-Blind Hypopigmentation Syndrome 
Yim Ebbin Syndrome 
Zori Stalker Williams Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: COMMAD
Primary IDs: OMIM:617306 ;   RDO:0016188

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