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Ontology Browser

Term:
cleidocranial dysplasia (DOID:13994)
Annotations: Rat: (7) Mouse: (7) Human: (7) Chinchilla: (7) Bonobo: (6) Dog: (7) Squirrel: (6) Pig: (7)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
acheiropody  
achondrogenesis +   
achondrogenesis type II  
achondroplasia +   
acrocapitofemoral dysplasia  
acrodysostosis +   
Acrodysplasia Scoliosis 
Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia 
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
age related macular degeneration +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Akaba Hayasaka Syndrome 
Alazami Syndrome  
ALAZAMI-YUAN SYNDROME  
Alexander Disease  
Alopecia, Epilepsy, Pyorrhea, Mental Subnormality 
Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis  
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
Alzheimer's disease 9  
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
Andersen-Tawil syndrome  
anterior segment dysgenesis +   
apolipoprotein C-III deficiency +   
APP-related cerebral amyloid angiopathy  
arrhythmogenic right ventricular dysplasia 1  
arrhythmogenic right ventricular dysplasia 10  
arrhythmogenic right ventricular dysplasia 11  
arrhythmogenic right ventricular dysplasia 12  
arrhythmogenic right ventricular dysplasia 13  
arrhythmogenic right ventricular dysplasia 2  
arrhythmogenic right ventricular dysplasia 3 
arrhythmogenic right ventricular dysplasia 4 
arrhythmogenic right ventricular dysplasia 5  
arrhythmogenic right ventricular dysplasia 8  
arrhythmogenic right ventricular dysplasia 9  
Arthrogryposis Multiplex Congenita Whistling Face 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
asphyxiating thoracic dystrophy +   
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
atrial heart septal defect 2  
atrial heart septal defect 5  
atrial heart septal defect 6  
atrial heart septal defect 7  
atrial heart septal defect 8  
atrial heart septal defect 9  
Au-Kline Syndrome  
Auriculoosteodysplasia 
autoimmune lymphoproliferative syndrome type 2A  
autoimmune lymphoproliferative syndrome type 4  
autosomal dominant Alport syndrome  
autosomal dominant centronuclear myopathy +   
autosomal dominant cerebellar ataxia +   
autosomal dominant chondrodysplasia punctata +  
autosomal dominant chronic granulomatous disease 
autosomal dominant cutis laxa +   
autosomal dominant distal hereditary motor neuronopathy +   
Autosomal Dominant Dyskeratosis Congenita +   
autosomal dominant Emery-Dreifuss muscular dystrophy 4  
autosomal dominant Emery-Dreifuss muscular dystrophy 5  
autosomal dominant Emery-Dreifuss muscular dystrophy 7  
autosomal dominant endosteal hyperostosis  
autosomal dominant familial periodic fever  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
autosomal dominant keratitis  
autosomal dominant keratitis-ichthyosis-deafness syndrome  
autosomal dominant limb-girdle muscular dystrophy +   
autosomal dominant macrothrombocytopenia TUBB1-related  
autosomal dominant mental retardation 55  
autosomal dominant mental retardation 56  
autosomal dominant microcephaly +   
autosomal dominant nocturnal frontal lobe epilepsy +   
autosomal dominant non-syndromic intellectual disability +   
autosomal dominant nonsyndromic deafness +   
autosomal dominant osteopetrosis 1  
autosomal dominant osteopetrosis 2  
autosomal dominant polycystic kidney disease +   
autosomal dominant progressive external ophthalmoplegia 1  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5  
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6  
autosomal dominant pseudohypoaldosteronism type 1  
autosomal dominant Robinow syndrome 1  
autosomal dominant Robinow syndrome 2  
autosomal dominant Robinow syndrome 3  
autosomal dominant sensory ataxia 1  
autosomal dominant sideroblastic anemia 4  
autosomal dominant type IV Ehlers-Danlos syndrome +   
autosomal dominant Wolfram syndrome  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Baker Vinters Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
benign familial hematuria  
Beukes hip dysplasia  
bilateral optic nerve hypoplasia  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
Blepharochalasis and Double Lip 
blepharocheilodontic syndrome +   
Blepharophimosis with Facial and Genital Anomalies and Mental Retardation 
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Blount's disease 
blue color blindness  
Boomerang dysplasia  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
Brachymesomelia Renal Syndrome 
brachyolmia +   
Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia 
Brachytelephalangy Characteristic Facies Kallmann 
Branchial Cleft Anomalies 
branchiooculofacial syndrome  
branchiootorenal syndrome +   
bronchiectasis 1  
bronchiectasis 2  
bronchiectasis 3  
Brooke-Spiegler syndrome  
Brown-Vialetto-Van Laere syndrome +   
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
CADASIL 1  
CADASIL 2  
Caffey disease +   
Calvarial Hyperostosis 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
Camurati-Engelmann disease +   
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Carney complex +   
Carney-Stratakis syndrome  
Cartilage Hair Hypoplasia Like Syndrome 
cartilage-hair hypoplasia  
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME  
cerebrocostomandibular syndrome  
Cerebrooculofacioskeletal Syndrome 2  
Cerebrooculofacioskeletal Syndrome 4  
Cerebrooculonasal Syndrome 
Charcot-Marie-Tooth disease axonal type 2C  
Charcot-Marie-Tooth disease axonal type 2CC  
Charcot-Marie-Tooth disease axonal type 2F  
Charcot-Marie-Tooth disease axonal type 2K  
Charcot-Marie-Tooth disease axonal type 2L  
Charcot-Marie-Tooth disease axonal type 2N  
Charcot-Marie-Tooth disease axonal type 2O  
Charcot-Marie-Tooth disease axonal type 2P  
Charcot-Marie-Tooth disease axonal type 2Q  
Charcot-Marie-Tooth disease axonal type 2T  
Charcot-Marie-Tooth disease axonal type 2U  
Charcot-Marie-Tooth disease axonal type 2V  
Charcot-Marie-Tooth disease axonal type 2Z  
Charcot-Marie-Tooth disease dominant intermediate A 
Charcot-Marie-Tooth disease dominant intermediate B +   
Charcot-Marie-Tooth disease dominant intermediate C  
Charcot-Marie-Tooth disease dominant intermediate D  
Charcot-Marie-Tooth disease dominant intermediate E  
Charcot-Marie-Tooth disease dominant intermediate F  
Charcot-Marie-Tooth disease dominant intermediate G  
Charcot-Marie-Tooth disease type 1A  
Charcot-Marie-Tooth disease type 1B  
Charcot-Marie-Tooth disease type 1C  
Charcot-Marie-Tooth disease type 1D  
Charcot-Marie-Tooth disease type 1E  
Charcot-Marie-Tooth disease type 1F  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2 +   
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2E  
Charcot-Marie-Tooth disease type 2I  
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease type 2Y  
Charcot-Marie-Tooth disease type 3  
Charcot-Marie-Tooth disease type 4E  
Charcot-Marie-Tooth disease type 5 
Charcot-Marie-Tooth disease, axonal type 2W  
cherubism +   
childhood onset GLUT1 deficiency syndrome 2  
CHITAYAT SYNDROME  
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  
chromosome 13q14 deletion syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
Chromosome 18 Pericentric Inversion 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 8q21.11 deletion syndrome 
Chromosome Xq28 Duplication Syndrome 
CINCA syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleidocranial dysplasia +   
Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.
Cleidorhizomelic Syndrome 
Cloverleaf Skull Micromelia Thoracic Dysplasia 
cocoon syndrome  
CODAS syndrome  
COL4A1-related familial vascular leukoencephalopathy  
Collagenopathy, Type 2 Alpha 1 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
combined oxidative phosphorylation deficiency 2  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
Congenital Cataracts, Facial Dysmorphism, and Neuropathy  
congenital central hypoventilation syndrome  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital diarrhea 6  
congenital dyserythropoietic anemia type IV  
CONGENITAL HEART DEFECTS, DYSMORPHIC FACIAL FEATURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER  
Congenital Micromelic Dysplasia with Dislocation of Radius +   
congenital muscular dystrophy due to LMNA mutation  
congenital myasthenic syndrome 18  
congenital myasthenic syndrome 1A  
congenital myasthenic syndrome 1B  
congenital myasthenic syndrome 2A  
congenital myasthenic syndrome 3A  
congenital myasthenic syndrome 4A  
congenital myasthenic syndrome 7  
Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency +   
congenital nongoitrous hypothyroidism 2  
congenital nongoitrous hypothyroidism 3 
congenital nongoitrous hypothyroidism 5  
congenital nongoitrous hypothyroidism 6  
congenital stationary night blindness autosomal dominant 1  
congenital stationary night blindness autosomal dominant 2  
congenital stationary night blindness autosomal dominant 3  
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA  
cortisone reductase deficiency 2  
Costello syndrome  
Cousin Syndrome  
Cowden syndrome +   
Cranioacrofacial Syndrome 
craniodiaphyseal dysplasia +   
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation 
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells 
Craniofacial Dyssynostosis 
craniofacial-deafness-hand syndrome  
Craniofacioskeletal Syndrome 
craniofrontonasal syndrome  
craniolenticulosutural dysplasia  
craniometaphyseal dysplasia +   
Craniomicromelic Syndrome 
Craniorhiny 
craniosynostosis +   
Crouzon syndrome +   
Crouzon syndrome-acanthosis nigricans syndrome  
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
Curly Hair-Acral Keratoderma-Caries Syndrome 
Czech Dysplasia, Metatarsal Type  
D-2-hydroxyglutaric aciduria 2  
Denys-Drash syndrome  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diaphanospondylodysostosis  
diastrophic dysplasia +   
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1A  
dilated cardiomyopathy 1AA  
dilated cardiomyopathy 1B  
dilated cardiomyopathy 1C  
dilated cardiomyopathy 1CC  
dilated cardiomyopathy 1D  
dilated cardiomyopathy 1DD  
dilated cardiomyopathy 1E  
dilated cardiomyopathy 1HH  
dilated cardiomyopathy 1II  
dilated cardiomyopathy 1JJ  
dilated cardiomyopathy 1KK  
dilated cardiomyopathy 1NN  
dilated cardiomyopathy 1R  
dilated cardiomyopathy 1S  
dilated cardiomyopathy 1U  
dilated cardiomyopathy 1V  
dilated cardiomyopathy 1Y  
Distal Arthrogryposis, with Hypopituitarism, Mental Retardation, and Facial Anomalies 
distal myopathy 1  
DNA ligase IV deficiency  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Donohue syndrome  
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
Dyschondrosteosis and Nephritis 
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
EEC syndrome +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type +   
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
epidermolysis bullosa simplex with mottled pigmentation  
epidermolysis bullosa with congenital localized absence of skin and deformity of nails  
Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 
Epiphyseal Dysplasia, Baumann Type 
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
Erosive Arthropathy 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
essential tremor 1  
essential tremor 2  
essential tremor 4  
essential tremor 5  
EVEN-PLUS SYNDROME  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
exudative vitreoretinopathy 1  
exudative vitreoretinopathy 3 
exudative vitreoretinopathy 5  
exudative vitreoretinopathy 6  
exudative vitreoretinopathy 7  
Facial Dysmorphism with Multiple Malformations +   
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome  
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature  
Faciocardiomelic Syndrome 
Fairbank Disease 
familial apolipoprotein A5 deficiency  
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 4  
familial encephalopathy with neuroserpin inclusion bodies  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial hypocalciuric hypercalcemia +   
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
familial progressive hyperpigmentation with or without hypopigmentation  
familial temporal lobe epilepsy 1  
familial temporal lobe epilepsy 2 
familial temporal lobe epilepsy 3  
familial temporal lobe epilepsy 4 
familial temporal lobe epilepsy 5  
familial temporal lobe epilepsy 6 
familial temporal lobe epilepsy 7  
familial temporal lobe epilepsy 8  
Fanconi anemia complementation group R  
Faye-Petersen Ward Carey Syndrome 
Feingold syndrome +   
Fg Syndrome 5 
fibrochondrogenesis +   
fibrodysplasia ossificans progressiva  
Fibrous Dysplasia of Bone +   
Finnish type amyloidosis  
Floating-Harbor syndrome  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Forebrain Defects  
Fountain Syndrome 
Fragile Site 16p12 
Fraser Jequier Chen Syndrome 
Fraser-Like Syndrome 
Frasier syndrome  
Fronto-Facio-Nasal Dysplasia 
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
Geleophysic Dysplasia +   
Genitopatellar Syndrome  
Ghosal Hematodiaphyseal Dysplasia  
giant axonal neuropathy 2  
gnathodiaphyseal dysplasia  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
granular corneal dystrophy +   
Greenberg Dysplasia  
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
Hall Riggs Mental Retardation Syndrome 
hand-foot-genital syndrome  
Hanhart Syndrome 
Harrod Doman Keele Syndrome 
Haspeslagh Fryns Muelenaere Syndrome 
hawkinsinuria  
Hecht Scott Syndrome 
Heinz body anemia  
Hennekam syndrome +   
hereditary breast ovarian cancer syndrome  
hereditary hemorrhagic telangiectasia +   
hereditary lymphedema IA  
hereditary lymphedema IC  
hereditary lymphedema ID  
hereditary multiple exostoses +   
hereditary neuropathy with liability to pressure palsies  
hereditary neutrophilia  
hereditary sensory and autonomic neuropathy type 1A  
hereditary sensory and autonomic neuropathy type 1C  
hereditary sensory and autonomic neuropathy type 7  
hereditary sensory neuropathy type 1B 
hereditary sensory neuropathy type 1D  
hereditary sensory neuropathy type 1E  
hereditary sensory neuropathy type 1F  
hereditary spastic paraplegia 10  
hereditary spastic paraplegia 12  
hereditary spastic paraplegia 13  
hereditary spastic paraplegia 17  
hereditary spastic paraplegia 19 
hereditary spastic paraplegia 29 
hereditary spastic paraplegia 31  
hereditary spastic paraplegia 33  
hereditary spastic paraplegia 36 
hereditary spastic paraplegia 37 
hereditary spastic paraplegia 38 
hereditary spastic paraplegia 3A  
hereditary spastic paraplegia 4  
hereditary spastic paraplegia 41 
hereditary spastic paraplegia 42  
hereditary spastic paraplegia 6  
hereditary spastic paraplegia 72  
hereditary spastic paraplegia 73  
hereditary spastic paraplegia 8  
hereditary spherocytosis type 1  
hereditary spherocytosis type 2  
hereditary spherocytosis type 4  
holoprosencephaly +   
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holt-Oram syndrome  
Humeroradial Synostosis with Craniofacial Anomalies 
hyper IgE recurrent infection syndrome 1  
hyperalphalipoproteinemia 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hyperostosis Frontalis Interna +  
Hypertelorism +   
hypertension and brachydactyly syndrome  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
hypogonadotropic hypogonadism 14 with or without anosmia  
hypogonadotropic hypogonadism 15 with or without anosmia  
hypogonadotropic hypogonadism 16 with or without anosmia  
hypogonadotropic hypogonadism 17 with or without anosmia  
hypogonadotropic hypogonadism 18 with or without anosmia  
hypogonadotropic hypogonadism 19 with or without anosmia  
hypogonadotropic hypogonadism 2 with or without anosmia +   
hypogonadotropic hypogonadism 20 with or without anosmia  
hypogonadotropic hypogonadism 21 with or without anosmia  
hypogonadotropic hypogonadism 3 with or without anosmia  
hypogonadotropic hypogonadism 4 with or without anosmia  
hypogonadotropic hypogonadism 5 with or without anosmia +   
hypogonadotropic hypogonadism 6 with or without anosmia  
hypogonadotropic hypogonadism 9 with or without anosmia  
hypomyelinating leukodystrophy 6  
hypoparathyroidism-retardation-dysmorphism syndrome  
hypophosphatasia +   
hypotonia-cystinuria syndrome  
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome  
Ichthyosis Cheek Eyebrow Syndrome 
ichthyosis vulgaris +   
IMAGe syndrome  
Immunodeficiency 31C  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2  
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3  
inflammatory bowel disease 21 
inflammatory bowel disease 3 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS  
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
ischiocoxopodopatellar syndrome  
isolated elevated serum creatine phosphokinase levels  
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
IVIC syndrome  
Jansen's metaphyseal chondrodysplasia  
Jequier Kozlowski Skeletal Dysplasia 
Jones Hersh Yusk Syndrome 
juvenile glaucoma  
juvenile polyposis syndrome +   
Kapur Toriello Syndrome 
Kashin-Beck Disease  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kosztolanyi Syndrome 
Kozlowski Tsuruta Taki Syndrome 
LADD syndrome  
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Larsen syndrome  
Larsen Syndromes +   
Larsen-like syndrome B3GAT3 type  
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
Leichtman Wood Rohn Syndrome 
Lenz-Majewski hyperostotic dwarfism  
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Li-Fraumeni syndrome +   
Linear Skin Defects with Multiple Congenital Anomalies 2  
Loeys-Dietz syndrome +   
long QT syndrome 1  
long QT syndrome 10 +   
long QT syndrome 11  
long QT syndrome 12  
long QT syndrome 13  
long QT syndrome 14  
long QT syndrome 15  
long QT syndrome 2  
long QT syndrome 3  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Loucks-Innes Syndrome  
Lowry Wood Syndrome  
Lujan Fryns Syndrome  
lymphedema-distichiasis syndrome +   
Lynch syndrome +   
Macrocephaly +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
macrocephaly-autism syndrome  
Madelung Deformity 
Maffucci syndrome 
malignant hyperthermia +   
Mandibuloacral Dysplasia with Type B Lipodystrophy  
Mandibulofacial Dysostosis Syndrome, Bauru Type 
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia 
mandibulofacial dysostosis, Guion-Almeida type  
Marshall syndrome +   
Marshall-Smith syndrome  
maturity-onset diabetes of the young +   
Maxillofacial Abnormalities +   
mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations  
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Meier-Gorlin syndrome 6  
melanoma and neural system tumor syndrome  
Menke-Hennekam Syndrome +   
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects  
Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature 
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism 
Mental Retardation, Skeletal Dysplasia, and Abducens Palsy 
Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type 
Mesomelic Dwarfism Reinhardt Pfeiffer Type 
Mesomelic Dysplasia, Savarirayan Type 
metachondromatosis  
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 
metatropic dysplasia  
Microcephalic Osteodysplastic Primordial Dwarfism +   
microcephaly +   
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
midface dysplasia 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Morillo-Cucci Passarge Syndrome 
Mowat-Wilson syndrome  
Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism  
Muckle-Wells syndrome  
Muenke syndrome  
Mullerian aplasia and hyperandrogenism  
multicentric carpotarsal osteolysis syndrome  
Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple epiphyseal dysplasia +   
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
multiple epiphyseal dysplasia with myopia and deafness  
Multisystem Autoimmune Disease, with Facial Dysmorphism  
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay 
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
Nablus Mask-Like Facial Syndrome 
nail-patella syndrome +   
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
nephrotic syndrome type 4  
neurodegeneration with brain iron accumulation 3  
Neurofaciodigitorenal Syndrome 
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Nievergelt Syndrome 
Noonan syndrome +   
Noonan syndrome 1  
Noonan syndrome 10  
Noonan syndrome 3  
Noonan syndrome 4  
Noonan syndrome 5  
Noonan syndrome 6  
Noonan syndrome 7  
Noonan syndrome 8  
Noonan syndrome 9  
ocular albinism with sensorineural deafness  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculodentodigital Dysplasia, Autosomal Recessive  
Oculootofacial Dysplasia +   
Ollier disease  
omodysplasia +   
Opitz GBBB Syndrome, Type II  
Opitz-GBBB syndrome +   
Opsismodysplasia  
optic atrophy 1  
optic atrophy 10  
optic atrophy 3  
optic atrophy 4 
optic atrophy 5  
optic atrophy 8  
Orbital Margin, Hypoplasia of 
orofacial cleft 1  
orofacial cleft 13 
orofacial cleft 6  
orofaciodigital syndrome +   
Osebold Skeletal Dysplasia Osteolysis Syndrome 
Osteoarthritis with Mild Chondrodysplasia  
OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE  
Osteochondroma +   
Osteodysplasia, Familial, Anderson Type 
osteogenesis imperfecta +   
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otofacioosseous-Gonadal Syndrome 
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 8  
pachyonychia congenita +   
Pallister W Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
PAPA syndrome  
paraganglioma +   
Parkinson's disease 1  
Parkinson's disease 17  
Parkinson's disease 21  
Parkinson's disease 22  
Parkinson's disease 3 
Parkinson's disease 4  
Parkinson's disease 8  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Pashayan Syndrome 
Pelger-Huet anomaly +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
permanent neonatal diabetes mellitus +   
Perry syndrome  
Pfeiffer syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Pitt-Hopkins syndrome +   
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic liver disease +   
Polydysspondyly 
popliteal pterygium syndrome +   
Posterior Exchondrosis of Pinna 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
Potato Nose  
Preauricular Fistulae, Congenital 
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
Prieto syndrome 
primary failure of tooth eruption  
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive myoclonus epilepsy 7  
progressive pseudorheumatoid arthropathy of childhood  
proximal symphalangism  
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
Pubic Bone Dysplasia 
punctate palmoplantar keratoderma type III 
pycnodysostosis  
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
renal coloboma syndrome  
retinitis pigmentosa 1  
retinitis pigmentosa 10  
retinitis pigmentosa 11  
retinitis pigmentosa 13  
retinitis pigmentosa 17  
retinitis pigmentosa 18  
retinitis pigmentosa 27  
retinitis pigmentosa 33  
retinitis pigmentosa 35  
retinitis pigmentosa 37  
retinitis pigmentosa 4  
retinitis pigmentosa 42  
retinitis pigmentosa 60  
retinitis pigmentosa 63 
retinitis pigmentosa 7  
retinitis pigmentosa 70  
retinitis pigmentosa 9  
retinitis pigmentosa-deafness syndrome  
Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension 
Riddle syndrome  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman Syndrome  
Romano-Ward Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Meyer Syndrome 
SC phocomelia syndrome  
SCARF Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
Schinzel-Giedion Syndrome  
schizophrenia 1 
schizophrenia 10 
schizophrenia 11 
schizophrenia 12 
schizophrenia 15  
schizophrenia 2 
schizophrenia 3 
schizophrenia 4  
schizophrenia 5  
schizophrenia 6  
schizophrenia 7 
schizophrenia 8 
schneckenbecken dysplasia  
Schwartz-Jampel syndrome 1  
Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities 
sclerosteosis 2  
Seaver Cassidy Syndrome 
Seckel Like Syndrome Type Buebel 
selective pituitary thyroid hormone resistance  
Sener Syndrome 
sepiapterin reductase deficiency  
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
SHORT syndrome  
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Simosa Cranio Facial Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
Smith-Kingsmore Syndrome  
solitary median maxillary central incisor  
Sonoda Syndrome 
Sorsby's fundus dystrophy  
speech-language disorder-1  
spermatogenic failure 10  
spermatogenic failure 11  
spermatogenic failure 12  
spermatogenic failure 2 
spermatogenic failure 3  
spermatogenic failure 4  
spermatogenic failure 8  
Spinal Dysplasia, Anhalt Type 
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
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 
Stickler syndrome +   
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
Stuve-Wiedemann Syndrome  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
tarsal-carpal coalition syndrome  
Teebi Naguib Al Awadi syndrome 
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy Syndrome  
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
Tetrasomy X 
thanatophoric dysplasia +   
Thiel-Behnke corneal dystrophy  
Thoracolaryngopelvic Dysplasia 
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
Tollner Horst Manzke Syndrome 
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy 
Townes-Brocks syndrome +   
Tracheobronchopathia Osteoplastica 
transthyretin amyloidosis  
Treacher Collins syndrome +   
Tricho-Dento-Osseous Syndrome  
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
ulnar-mammary syndrome  
Upington Disease 
Urioste Martinez-Frias Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
Verloes Van Maldergem Marneffe Syndrome 
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
Vertebral Body Fusion Overgrowth 
Viljoen Kallis Voges Syndrome 
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Waardenburg's syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
Weissenbacher-Zweymuller syndrome +   
WHIM syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Wolcott-Rallison syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: CCD ;   Marie Sainton syndrome ;   Marie-Sainton disease ;   Scheuthauer Marie Sainton syndrome ;   cleidocranial digital dysostoses ;   cleidocranial digital dysostosis ;   cleidocranial dysostoses ;   cleidocranial dysplasias
Narrow Synonyms: CLCD CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY ;   CLEIDOCRANIAL DYSOSTOSIS ;   CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE ;   CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY ;   severe cleidocranial dysplasia with osteoporosis and scoliosis
Primary IDs: MESH:D002973
Alternate IDs: OMIM:119600 ;   RDO:0000086
Xrefs: GARD:6118 ;   ICD10CM:Q74.0 ;   NCI:C75020 ;   ORDO:1452
Definition Sources: MESH:D002973, http://en.wikipedia.org/wiki/Cleidocranial_dysostosis, http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia, http://www.faces-cranio.org/Disord/CCD.htm, http://www.healthline.com/galecontent/cleidocranial-dysplasia-1, http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm, http://www.umm.edu/ency/article/001589.htm

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