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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cleft palate +     
collagen disease +     
Dwarfism +     
3-M syndrome +   
Aarskog syndrome +   
Aase Smith Syndrome 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Abuse Dwarfism 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  
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
acromesomelic dysplasia +   
acromicric dysplasia +   
Acropectorovertebral Dysplasia 
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 +   
Akaba Hayasaka Syndrome 
Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus 
Alexander Disease  
Alopecia Contractures Dwarfism Mental Retardation 
Alport syndrome +   
Alzheimer's disease 1 +   
Alzheimer's disease 2  
Alzheimer's disease 3 +   
Alzheimer's disease 4  
Alzheimer's disease 5 
amelogenesis imperfecta type 1A  
amelogenesis imperfecta type 1B  
amelogenesis imperfecta type 3A  
amelogenesis imperfecta type 3B  
amelogenesis imperfecta type 4  
Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis 
Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia  
anauxetic dysplasia 1  
Anauxetic Dysplasia 2  
Andersen-Tawil syndrome  
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
anterior segment dysgenesis +   
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, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
asphyxiating thoracic dystrophy +   
Astley-Kendall Syndrome 
Asymmetric Short Stature Syndrome 
atelosteogenesis +   
Atelosteogenesis Type 3  
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  
Aughton 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 familial periodic fever  
autosomal dominant hyaline body myopathy  
autosomal dominant hypocalcemia +   
autosomal dominant hypophosphatemic rickets  
autosomal dominant isolated ectopia lentis 1  
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 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 +   
Baetz-Greenwalt syndrome 
Bamforth-Lazarus syndrome  
Bangstad Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Bart-Pumphrey syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Beare-Stevenson cutis gyrata syndrome  
Bird Headed Dwarfism Montreal Type 
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
Blount's disease 
blue color blindness  
Boomerang dysplasia  
Brachydactylous Dwarfism Mseleni Type 
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
brachyolmia +   
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  
Brunoni Syndrome 
bullous congenital ichthyosiform erythroderma  
Bullous Dystrophy, Hereditary Macular Type 
CADASIL 1  
CADASIL 2  
Caffey disease +   
campomelic dysplasia +   
Camurati-Engelmann disease +   
Cantu Sanchez-Corona Fragoso Syndrome 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Cardiomyopathy Hypogonadism Collagenoma Syndrome 
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  
cerebrocostomandibular 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  
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  
CINCA syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Palate with Ankyloglossia  
Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly 
Cleft Palate, Deafness, and Oligodontia 
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features  
cleft soft palate  
cleidocranial dysplasia +   
Cleidorhizomelic Syndrome 
Clouston syndrome  
Cloverleaf Skull Micromelia Thoracic Dysplasia 
Cockayne syndrome +   
CODAS syndrome  
COL4A1-related familial vascular leukoencephalopathy  
Collagenopathy, Type 2 Alpha 1 
Collagenosis, Familial Reactive Perforating 
Coloboma of Alar-Nasal Cartilages with Telecanthus 
Coloboma of Macula and Skeletal Anomalies 
Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia  
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
congenital central hypoventilation syndrome  
congenital diarrhea 6  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
congenital hypothyroidism +   
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 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  
Congenital Symmetric Circumferential Skin Creases +   
Cornelia de Lange syndrome 1  
Cornelia de Lange syndrome 3  
Cornelia de Lange syndrome 4  
cortisone reductase deficiency 2  
Costello syndrome  
Cowden syndrome +   
craniometaphyseal dysplasia +   
Craniosynostosis Mental Retardation Clefting Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
Czech Dysplasia, Metatarsal Type  
D-2-hydroxyglutaric aciduria 2  
De Sanctis-Cacchione Syndrome  
Denys-Drash syndrome  
dermatopathia pigmentosa reticularis  
Desbuquois dysplasia +   
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
diastrophic dysplasia +   
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  
Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 
disseminated eosinophilic collagen disease 
distal myopathy 1  
dominant optic atrophy plus syndrome  
dominant pericentral pigmentary retinopathy 
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Dwarfism Tall Vertebrae 
Dwarfism, Familial, with Muscle Spasms 
Dwarfism, Levi Type 
Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone 
Dyggve-Melchior-Clausen disease +   
Dyschondrosteosis and Nephritis 
dysplastic nevus syndrome +   
Dyssegmental Dysplasia with Glaucoma 
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME  
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Ehlers-Danlos syndrome +   
Eiken Skeletal Dysplasia  
Ellis-Van Creveld syndrome +   
Emanuel Syndrome 
epidermolysis bullosa dystrophica +   
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 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiorenal Syndrome 
Fairbank Disease 
familial cold autoinflammatory syndrome 1  
familial cold autoinflammatory syndrome 2  
familial cold autoinflammatory syndrome 4  
Familial Cutaneous Collagenoma  
familial encephalopathy with neuroserpin inclusion bodies  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial hypocalciuric hypercalcemia +   
Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia 
familial partial lipodystrophy type 2  
familial partial lipodystrophy type 3  
familial partial lipodystrophy type 4  
Familial Popliteal Pterygium Syndrome 
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 +   
Feingold Trainer Syndrome 
fibrochondrogenesis +   
fibrodysplasia ossificans progressiva  
Fibrous Dysplasia of Bone +   
Finnish type amyloidosis  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Fraser Jequier Chen Syndrome 
Frasier syndrome  
Frontometaphyseal Dysplasia +   
Frontonasal Dysplasia 3  
Frontootopalatodigital Osteodysplasia 
Genito Palato Cardiac Syndrome 
geroderma osteodysplasticum  
Ghosal Hematodiaphyseal Dysplasia  
giant axonal neuropathy 2  
Gordon Syndrome  
granular corneal dystrophy +   
Greenberg Dysplasia  
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Hadziselimovic Syndrome 
Hailey-Hailey disease  
Hajdu-Cheney syndrome  
Halal Syndrome 
hand-foot-genital syndrome  
Hardikar Syndrome 
Hay Wells Syndrome Recessive Type 
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  
Hip Dysplasia, Beukes Type  
Ho Kaufman Mcalister Syndrome 
holoprosencephaly 1  
holoprosencephaly 11  
holoprosencephaly 2  
holoprosencephaly 3  
holoprosencephaly 4  
holoprosencephaly 5  
holoprosencephaly 7  
holoprosencephaly 9  
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate  
Holt-Oram syndrome  
Holzgreve-Wagner-Rehder syndrome 
hyper IgE recurrent infection syndrome 1  
hyperekplexia 1  
hyperekplexia 3  
hyperferritinemia-cataract syndrome  
Hyperostosis Frontalis Interna +  
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
hypertrichotic osteochondrodysplasia Cantu type  
hypochondrogenesis  
hypochondroplasia  
Hypodontia Oligodontia with Orofacial Cleft 
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 +   
hypotrichosis 1  
hypotrichosis 11  
hypotrichosis 12  
hypotrichosis 13  
hypotrichosis 2  
hypotrichosis 3  
hypotrichosis 4  
hypotrichosis 5 
Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate 
ichthyosis vulgaris +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Iida Kannari Syndrome 
IMAGe syndrome  
IMMUNODEFICIENCY 31C  
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES  
inflammatory bowel disease 21 
inflammatory bowel disease 3 
Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature  
intellectual disability-severe speech delay-mild dysmorphism syndrome  
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
isolated cleft palate  
isolated elevated serum creatine phosphokinase levels  
isolated growth hormone deficiency +   
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
Jansen's metaphyseal chondrodysplasia  
Jequier Kozlowski Skeletal Dysplasia 
juvenile glaucoma  
juvenile polyposis syndrome +   
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
Kashin-Beck Disease  
Keloid +   
Kenny-Caffey Syndrome, Type 2  
Keratosis Follicularis Dwarfism Cerebral Atrophy 
Kniest dysplasia  
An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)
Kniest Like Dysplasia Lethal  
Kniest-Like Dysplasia with Pursed Lips and Ectopia Lentis 
Kozlowski Tsuruta Taki Syndrome 
Kuster Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Langer Mesomelic Dysplasia  
Laplane Fontaine Lagardere Syndrome 
Laron syndrome +   
Larsen syndrome  
Larsen Syndromes +   
lateral meningocele syndrome  
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
LEOPARD syndrome +   
Leri-Weill dyschondrosteosis  
Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density 
Leukoencephalopathy with Metaphyseal Chondrodysplasia 
Li-Fraumeni syndrome +   
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 Maclean syndrome 
Lowry Wood Syndrome 
Lynch syndrome +   
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies  
macrocephaly-autism syndrome  
Macrosomia with Lethal Microphthalmia 
Madelung Deformity 
Maffucci syndrome 
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
Marshall Syndrome +   
Martinez Monasterio Pinheiro Syndrome 
maturity-onset diabetes of the young +   
McPherson Clemens Syndrome 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Meier-Gorlin syndrome 6  
Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism 
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
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 with Maxillary Hypoplasia with or without Brachydactyly  
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy 
Metaphyseal Dysplasia, Braun-Tinschert Type 
Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth 
Metatropic Dwarfism  
Metatropic Dwarfism, Type II 
Microcephalic Osteodysplastic Primordial Dwarfism +   
Microcephalic Primordial Dwarfism Toriello Type 
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM +   
MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH OR WITHOUT SEIZURES  
Microcephaly-Micromelia Syndrome  
Micromelic Dwarfism Fryns Type 
Microtia, Hearing Impairment, and Cleft Palate  
midface dysplasia 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
mixed connective tissue disease  
Mollica Pavone Antener Syndrome 
monilethrix +   
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
mulibrey nanism  
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  
Multiple Epiphyseal Dysplasia with Robin Phenotype 
myoclonic dystonia 11  
myoclonic dystonia 15 
myoclonic dystonia 26  
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
nail-patella syndrome +   
Native American myopathy  
Necrobiotic Disorders +  
nemaline myopathy 1  
nemaline myopathy 4  
nemaline myopathy 6  
nephrotic syndrome type 4  
neurodegeneration with brain iron accumulation 3  
neurofibromatosis +   
nevoid basal cell carcinoma syndrome +   
Nievergelt 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  
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Oliver-McFarlane syndrome  
Ollier disease  
omodysplasia +   
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Opitz GBBB Syndrome, Type II  
Opitz-GBBB syndrome +   
Opsismodysplasia  
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 Dwarfism  
osteosclerosis +   
Oto-Palato-Digital Syndrome Type 1  
Oto-Palato-Digital Syndrome, Type 2  
Otopalatodigital Spectrum Disorder  
otospondylomegaepiphyseal dysplasia  
ovarian dysgenesis 8  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister-Hall syndrome +   
PAPA syndrome  
paraganglioma +   
Parastremmatic Dwarfism  
PARC Syndrome 
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 
Pelger-Huet anomaly +   
Pelvis-Shoulder Dysplasia 
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia 
permanent neonatal diabetes mellitus +   
Perry syndrome  
Pfeiffer syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly +   
polycystic liver disease +   
Polydysspondyly 
polymyalgia rheumatica  
popliteal pterygium syndrome +   
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
Precocious Osteodysplasty of Danks, Mayne, and Kozlowski 
primary failure of tooth eruption  
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
progressive pseudorheumatoid arthropathy of childhood  
Proportionate Dwarfism, with Hip Dislocation 
proximal symphalangism  
pseudoachondroplasia  
Pseudodiastrophic Dysplasia 
Pubic Bone Dysplasia 
punctate palmoplantar keratoderma type III 
pycnodysostosis  
Raine Syndrome  
Rambaud Galian Syndrome 
rapadilino syndrome  
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 
Robinow syndrome +   
Roifman Syndrome  
Romano-Ward Syndrome  
Rommen Mueller Sybert Syndrome 
Rosselli-Gulienetti Syndrome 
Rubinstein-Taybi syndrome +   
Ruvalcaba Syndrome 
SADDAN  
Saethre-Chotzen syndrome  
Sakoda Complex 
Samson Viljoen Syndrome 
SAPHO syndrome  
SAUL-WILSON SYNDROME  
Say Syndrome 
Schaefer Stein Oshman Syndrome 
Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias 
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  
Schrander-Stumpel Theunissen Hulsmans Syndrome 
Schwartz-Jampel syndrome 1  
scleroderma +   
sclerosteosis 2  
Seckel Like Syndrome Type Buebel 
Seckel syndrome 1  
Seckel syndrome 2  
Seckel Syndrome 3 
Seckel syndrome 4  
Selective Tooth Agenesis with Orofacial Cleft 
sepiapterin reductase deficiency  
Seres-Santamaria Arimany Muniz Syndrome 
Short Limb Dwarfism Al Gazali Type 
Short Stature and Facioauriculothoracic Malformations 
Short Stature Syndrome, Brussels Type 
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES  
SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES  
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis  
Short Stature, Developmental Delay, and Congenital Heart Defects  
SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES  
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES  
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION  
SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY  
Short Stature-Obesity Syndrome 
Silver-Russell syndrome +   
Silverman-Handmaker type dyssegmental dysplasia  
Singh Chhaparwal Dhanda Syndrome 
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Sketetal Dysplasia Coarse Facies Mental Retardation 
Slipped Capital Femoral Epiphyses 
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 
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia  
Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like  
Spondyloenchondrodysplasia  
spondyloepimetaphyseal dysplasia +   
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 Tarda, Toledo 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 +   
Stormorken syndrome  
Stuve-Wiedemann Syndrome  
Sweeney-Cox syndrome  
Synovial Chondromatosis, Familial, with Dwarfism 
tarsal-carpal coalition syndrome  
Teebi Naguib Al Awadi syndrome 
Ter Haar Syndrome  
Terminal Osseous Dysplasia and Pigmentary Defects  
thanatophoric dysplasia +   
Thiel-Behnke corneal dystrophy  
Thoraco Limb Dysplasia Rivera Type 
Thoracolaryngopelvic Dysplasia 
Thoracomelic Dysplasia 
tibial muscular dystrophy  
Tietz syndrome  
Timothy 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 +   
Trichorhinophalangeal Syndrome +   
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
Trichoscyphodysplasia 
Tryptophanuria with Dwarfism 
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
Ulna Metaphyseal Dysplasia Syndrome 
ulnar-mammary syndrome  
Upington Disease 
uveal coloboma-cleft lip and palate-intellectual disability  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
Verloes Van Maldergem Marneffe Syndrome 
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Waardenburg's syndrome +   
Weill-Marchesani syndrome +   
Weill-Marchesani-Like Syndrome  
Weissenbacher-Zweymuller syndrome +   
WHIM syndrome  
Wolcott-Rallison syndrome  
Worth's syndrome  
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 

Synonyms
Exact Synonyms: Kniest Chondrodystrophy ;   Kniest Syndrome ;   Swiss Cheese Cartilage Dysplasia
Primary IDs: MESH:C537207
Alternate IDs: OMIM:156550 ;   RDO:0002996
Xrefs: GARD:6841
Definition Sources: http://ghr.nlm.nih.gov/condition/kniest-dysplasia, http://www.ksginfo.org/kniest.html

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