Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Ontology Browser

Term:
Coloboma of Alar-Nasal Cartilages with Telecanthus (DOID:9007695)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0)
Parent Terms Term With Siblings Child Terms
blepharophimosis +     
coloboma +     
acheiropody  
achondrogenesis +   
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acrootoocular Syndrome 
Acropectorovertebral Dysplasia 
Akaba Hayasaka Syndrome 
Alsing Syndrome 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 
Arima Syndrome 
asphyxiating thoracic dystrophy +   
atelosteogenesis +   
Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects 
Auriculoosteodysplasia 
Baraitser Rodeck Garner syndrome 
Baraitser-Winter syndrome +   
Beukes hip dysplasia  
Biemond Syndrome II 
Blepharophimosis Syndrome Type 1  
Blepharophimosis Syndrome Type 2  
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blepharophimosis-intellectual disability syndrome, SBBYS type  
Blount's disease 
Boomerang dysplasia  
Brachydactyly, Coloboma, and Anterior Segment Dysgenesis 
brachyolmia +   
Caffey disease +   
Calloso-Genital Dysplasia 
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED  
chondrodysplasia Blomstrand type  
Chondrodysplasia Calcificans Metaphysealis 
chondrodysplasia punctata +   
Chondrodysplasia with Joint Dislocations, GPAPP Type  
Chondrodysplasia with Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, and Microphthalmia  
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chondrodysplasia-pseudohermaphroditism syndrome  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
COACH Syndrome  
CODAS syndrome  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Coloboma of Macula Type B Brachydactyly 
coloboma of optic nerve  
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS  
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome  
Czech Dysplasia, Metatarsal Type  
Desbuquois dysplasia +   
diastrophic dysplasia +   
Dyschondrosteosis and Nephritis 
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
Fairbank Disease 
Faye-Petersen Ward Carey Syndrome 
fibrochondrogenesis +   
Fibrous Dysplasia of Bone +   
Fraser Jequier Chen Syndrome 
Frontometaphyseal Dysplasia +   
Frontootopalatodigital Osteodysplasia 
Ghosal Hematodiaphyseal Dysplasia  
Greenberg Dysplasia  
Hereditary Macular Coloboma  
Hittner Hirsch Kreh Syndrome 
Hyperostosis Frontalis Interna +  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 
IMAGe syndrome  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
Isolated Microphthalmia with Coloboma +   
Jequier Kozlowski Skeletal Dysplasia 
Jorgenson Lenz Syndrome 
Kahrizi syndrome  
Kashin-Beck Disease  
Kaufman oculocerebrofacial syndrome  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Krauss Herman Holmes Syndrome 
Krieble Bixler Syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen Syndromes +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Lowry Wood Syndrome  
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
Macrosomia Obesity Macrocephaly Ocular Abnormalities 
Madelung Deformity 
Maffucci syndrome 
Marden Walker Like Syndrome  
Marden-Walker Syndrome  
Marles Greenberg Persaud Syndrome  
Marshall syndrome +   
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
Metaphyseal Anadysplasia +   
Metaphyseal Chondrodysplasia +   
metaphyseal dysplasia +   
Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia and Mental Deficiency 
Microphthalmia Associated with Colobomatous Cyst 
Microphthalmia, Cataracts, and Iris Abnormalities  
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME  
Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 
midface dysplasia 
Miura type epiphyseal chondrodysplasia  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple epiphyseal dysplasia +   
Nablus Mask-Like Facial Syndrome 
Nasopalpebral Lipoma Coloboma Syndrome  
Nievergelt Syndrome 
Ohdo syndrome +   
Ollier disease  
omodysplasia +   
Opsismodysplasia  
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteoglophonic dysplasia  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otodental Dysplasia 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
Pfeiffer Mayer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
Polydysspondyly 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
progressive pseudorheumatoid arthropathy of childhood  
pseudoachondroplasia  
Pubic Bone Dysplasia 
pycnodysostosis  
renal coloboma syndrome  
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Roifman Syndrome  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Schaefer Stein Oshman Syndrome 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Silverman-Handmaker type dyssegmental dysplasia  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
Spinal Dysplasia, Anhalt Type 
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive 
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type 
Spondyloepiphyseal Dysplasia with Atlantoaxial Instability 
spondyloepiphyseal dysplasia with congenital joint dislocations  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Spondyloepiphyseal Dysplasia with Punctate Corneal Dystrophy 
Spondyloepiphyseal Dysplasia, Kimberley Type  
Spondyloepiphyseal Dysplasia, Kondo-Fu Type  
Spondyloepiphyseal Dysplasia, Maroteaux Type  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
Spondyloepiphyseal Dysplasia, Nishimura Type  
Spondyloepiphyseal Dysplasia, Stanescu Type  
Spondyloepiphyseal Dysplasia-Brachydactyly and Distinctive Speech 
Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness 
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type  
Spondylometaphyseal Dysplasia with Bowed Forearms and Facial Dysmorphism 
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy  
Spondylometaphyseal Dysplasia with Dentinogenesis Imperfecta 
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type  
Spondylometaphyseal Dysplasia, Algerian Type 
Spondylometaphyseal Dysplasia, Axial  
Spondylometaphyseal Dysplasia, East-African Type 
Spondylometaphyseal Dysplasia, Kozlowski Type  
Spondylometaphyseal Dysplasia, Sedaghatian Type  
Spondylometaphyseal Dysplasia, Type A4 
Spondylometaphyseal Dysplasia, X-Linked 
Spondyloocular Syndrome, Autosomal Recessive  
Spondyloperipheral Dysplasia  
Spondylospinal Thoracic Dysostosis 
Stuve-Wiedemann Syndrome  
Teebi Naguib Al Awadi syndrome 
Temtamy Syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thoracolaryngopelvic Dysplasia 
Thumb, Hypoplastic, with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
Tracheobronchopathia Osteoplastica 
Trichorhinophalangeal Syndrome +   
Trichoscyphodysplasia 
Ulna Metaphyseal Dysplasia Syndrome 
Upington Disease 
uveal coloboma-cleft lip and palate-intellectual disability  
Verloes Van Maldergem Marneffe Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Weissenbacher-Zweymuller syndrome +   
Wolcott-Rallison syndrome  
Worth's syndrome  
Yim Ebbin Syndrome 
Zunich Neuroectodermal Syndrome  

Synonyms
Exact Synonyms: Frontonasal dysplasia with alar clefts
Primary IDs: MESH:C535967 ;   RDO:0001357

paths to the root

NHLBI Logo

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