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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Choristoma +     
corneal disease +     
Growth Disorders +     
3p deletion syndrome  
Acid-Labile Subunit Deficiency  
acrocapitofemoral dysplasia  
Acrocephalopolydactylous Dysplasia 
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations 
Al Gazali Khidr Prem Chandran Syndrome 
Al Kaissi Syndrome  
Aphalangia Syndactyly Microcephaly 
Arnold Stickler Bourne Syndrome 
Auriculoosteodysplasia 
Ayme-Gripp syndrome  
Bainbridge-Ropers syndrome  
Bellini Chiumello Rimoldi Syndrome 
Berk-Tabatznik Syndrome 
Bhaskar Jagannathan Syndrome 
Bilateral Choroidal Osteoma 
Blepharophimosis with Ptosis, Syndactyly, and Short Stature 
Borjeson-Forssman-Lehmann syndrome  
Boudhina Yedes Khiari syndrome 
Bowman's membrane folds or rupture 
brachydactyly type E2  
Braddock Carey Syndrome +   
Brittle Cornea Syndrome +   
Cantalamessa Baldini Ambrosi Syndrome 
Cantu Sanchez-Corona Fragoso Syndrome 
Cataract Microcornea Syndrome  
Cataracts, Ataxia, Short Stature, and Mental Retardation 
Chitty Hall Baraitser Syndrome 
chromosome 15q26-qter deletion syndrome  
chromosome 17q11.2 deletion syndrome  
Chromosome 18 Pericentric Inversion 
Clark-Baraitser syndrome  
CODAS syndrome  
Coffin Syndrome 1 
Colobomatous Macrophthalmia with Microcornea 
Congenital Progeroid Syndrome, Petty Type  
cornea cancer +  
cornea plana +   
corneal argyrosis 
corneal degeneration +   
corneal deposit +  
corneal dystrophy +   
corneal ectasia 
corneal edema +   
Corneal Endothelial Cell Loss 
Corneal Graft Rejection  
Corneal Hypesthesia, Familial 
Corneal Injuries +   
corneal intraepithelial neoplasm 
corneal neovascularization +   
Corneal Opacity +   
corneal staphyloma 
Corneal Wavefront Aberration 
Cote Katsantoni Syndrome 
Cousin Syndrome  
Coxoauricular Syndrome 
CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY  
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Crumpled Helices and Small Mouth 
Curatolo Cilio Pessagno Syndrome 
Daish Hardman Lamont Syndrome 
Dermoids of Cornea 
Devriendt syndrome 
diphthamide deficiency syndrome 1  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
DNA ligase IV deficiency  
Dubowitz syndrome  
Dyschondrosteosis and Nephritis 
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract 
EVEN-PLUS SYNDROME  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Fallot Complex with Severe Mental and Growth Retardation 
Fetal Growth Retardation +   
Filippi syndrome  
Floating-Harbor syndrome  
Forsythe-Wakeling Syndrome 
Frias Syndrome 
Game Friedman Paradice Syndrome 
GAPO syndrome  
Gay Feinmesser Cohen Syndrome 
geleophysic dysplasia +   
Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones 
glycogen storage disease IX +   
GOMBO Syndrome 
Gomez Lopez Hernandez Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia 
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy 
Growth Mental Deficiency Syndrome of Myhre  
GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES  
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 
Hairy Elbows 
Heme Oxygenase 1 Deficiency  
hereditary spastic paraplegia 9A  
Hersh Podruch Weisskopf Syndrome 
Heyn-Sproul-Jackson Syndrome  
Hooft Disease 
Hunter-McAlpine Syndrome 
Hutterite Cerebroosteonephrodysplasia Syndrome 
Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis 
hypoparathyroidism-retardation-dysmorphism syndrome  
Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness 
IGF1R-RELATED DISORDER  
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Insulin-Like Growth Factor I Deficiency  
Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA  
Johanson-Blizzard syndrome  
Jorgenson Lenz Syndrome 
keratitis +   
keratoconus +   
keratopathy +  
Kozlowski Rafinski Klicharska Syndrome 
Kuster Majewski Hammerstein Syndrome 
Ladda Zonana Ramer Syndrome 
Langer Mesomelic Dysplasia  
Larsen-like syndrome B3GAT3 type  
Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy 
Leri-Weill dyschondrosteosis  
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis 
Limbal Stem Cell Deficiency 
Lowry Maclean syndrome 
Lowry Wood Syndrome  
Macrosomia Adiposa Congenita 
Madelung Deformity 
Malocclusion and Short Stature 
megalocornea +   
Megarbane Syndrome 
Meier-Gorlin syndrome +   
Mental and Growth Retardation with Amblyopia 
Mental Retardation Mietens Weber Type 
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Microcephaly with Cervical Spine Fusion Anomalies 
microcephaly, growth deficiency, seizures, and brain malformations  
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange +   
Microcephaly, Short Stature, and Impaired Glucose Metabolism +   
Microcephaly, Short Stature, and Polymicrogyria with or without Seizures  
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1  
Microdontia Hypodontia Short Stature 
Microspherophakia +   
Milner Khallouf Gibson Syndrome 
Mitochondrial Myopathy with Lactic Acidosis  
Mollica-Pavone-Antener Syndrome 
Morillo-Cucci Passarge Syndrome 
Mosaic Variegated Aneuploidy Syndrome 5  
Mosaic Variegated Aneuploidy Syndrome 6  
Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly 
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
Nathalie Syndrome 
Neonatal Zinc Deficiency due to Low Breast Milk Zinc  
Neuhauser Syndrome 
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies  
Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities  
neurodevelopmental disorder with poor growth and behavioral abnormalities  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES  
NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES  
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss  
neurodevelopmental disorder with spasticity and poor growth  
Neurofaciodigitorenal Syndrome 
Nijmegen Breakage Syndrome-Like Disorder  
Ogden syndrome  
omodysplasia 1  
Onat Syndrome 
Osteolysis Syndrome, Recessive 
Partington Anderson Syndrome 
Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails 
Peters plus syndrome  
Petty Laxova Wiedemann Syndrome 
Pfeiffer Kapferer Syndrome 
Pfeiffer Mayer Syndrome 
Pfeiffer Palm Teller Syndrome 
Pili Torti, Developmental Delay, Neurological Abnormalities  
Pilotto Syndrome 
Polydysspondyly 
Premature Aging, Okamoto Type 
Progeria Short Stature Pigmented Nevi 
pseudopterygium 
PSPH deficiency  
pterygium +   
Qazi Markouizos syndrome 
Radioulnar Synostosis Retinal Pigment Abnormalities 
Rajab Interstitial Lung Disease with Brain Calcifications 1  
Ramon Syndrome 
Ramos Arroyo Clark Syndrome 
Reardon Wilson Cavanagh Syndrome 
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa 
ring dermoid of cornea  
Rodrigues Blindness 
Rommen Mueller Sybert Syndrome 
Rowley-Rosenberg Syndrome 
Ruijs-Aalfs syndrome  
Say Meyer Syndrome  
Say Syndrome 
Schaap Taylor Baraitser Syndrome 
Schimke X-Linked Mental Retardation Syndrome 
sclerocornea +   
Seemanova Lesny Syndrome 
Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation  
SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS  
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis  
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly  
SHORT syndrome  
SHOX-related short stature  
Siddiqi syndrome  
Silver-Russell Syndrome 3  
Slavotinek Pike Mills Hurst Syndrome 
Sonoda Syndrome 
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Pakistani type  
spondylometaphyseal dysplasia corner fracture type  
Stern Lubinsky Durrie Syndrome 
syndromic X-linked intellectual disability Cabezas type  
syndromic X-linked intellectual disability Turner type  
Synostosis of Talus and Calcaneus with Short Stature 
Tatton-Brown-Rahman syndrome  
THAUVIN-ROBINET-FAIVRE SYNDROME  
Theodor Hertz Goodman Syndrome 
Thumb Agenesis, Short Stature, and Immunodeficiency 
Tonoki Syndrome 
trachoma +   
Tsukahara Syndrome  
Turnpenny-Fry Syndrome  
Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency 
Verheij Syndrome  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Volcke Soekarman Syndrome 
Weill-Marchesani Syndrome 2  
Wellesley Carmen French Syndrome 
Wiedemann Grosse Dibbern Syndrome 
Wiedemann-Steiner syndrome  
Winchester syndrome  
Wittwer Syndrome  
X-linked mental retardation-hypotonic facies syndrome-1  
XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME  
Young Hughes Syndrome 
Zerres Rietschel Majewski Syndrome 
ZIEGLER-HUANG SYNDROME  

Synonyms
Exact Synonyms: Bilateral corneal dermoids ;   CND ;   Corneal dermoids and short stature ;   Guizar-Vazquez Luengas-Munoz syndrome
Primary IDs: MESH:C535376
Alternate IDs: MIM:304730

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