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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
cleft lip +     
cleft palate +     
Joint Dislocations +     
Larsen Syndromes +     
Aase Smith Syndrome 
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
achondrogenesis type II  
Ackerman Syndrome 
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia 
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
age related macular degeneration +   
Alexander Disease  
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  
Andersen-Tawil syndrome  
Ankyloblepharon Filiforme Adnatum 
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
anodontia +   
Anterior Segment Dysgenesis 4  
anterior segment mesenchymal dysgenesis +   
APP-related cerebral amyloid angiopathy  
AREDYLD Syndrome 
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  
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  
Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 
Aughton Syndrome 
Ausems Wittebol-Post Hennekam Syndrome 
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  
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser Rodeck Garner syndrome 
Bart-Pumphrey syndrome  
Basel-Vanagaite-Smirin-Yosef syndrome  
Beare-Stevenson cutis gyrata syndrome  
Birk-Barel syndrome  
Birt-Hogg-Dube syndrome  
Blau syndrome  
blepharocheilodontic syndrome +   
blepharophimosis, ptosis, and epicanthus inversus syndrome  
blue color blindness  
Book Syndrome 
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
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  
campomelic dysplasia +   
Carabelli Anomaly of Maxillary Molar Teeth 
Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies  
Carney complex +   
Carney-Stratakis syndrome  
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  
CINCA syndrome  
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 
Cleft Lip, Congenital Healed 
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 +   
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only  
Clouston syndrome  
CODAS syndrome  
COL4A1-related familial vascular leukoencephalopathy  
Coloboma of Macula and Skeletal Anomalies 
complex cortical dysplasia with other brain malformations +   
congenital adrenal insufficiency  
congenital central hypoventilation syndrome  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, and Onychodystrophy, Autosomal Dominant  
congenital diarrhea 6  
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
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 and Dental Anomalies  
Craniosynostosis Mental Retardation Clefting Syndrome 
Crouzon syndrome-acanthosis nigricans syndrome  
Crumpled Helices and Small Mouth 
CST3-related cerebral amyloid angiopathy +   
Culler-Jones syndrome  
Dens in Dente +  
dental enamel hypoplasia +   
dentin dysplasia +   
dentinogenesis imperfecta +   
Denys-Drash syndrome  
Dermoodontodysplasia 
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diamond-Blackfan Anemia with Microtia and Cleft Palate  
Diastasis, Bone +  
Diastasis, Muscle 
Diastema +  
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  
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis  
distal myopathy 1  
dominant pericentral pigmentary retinopathy 
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
dysplastic nevus syndrome +   
Dyssegmental Dysplasia, Rolland-Desbuquois Type 
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3  
Ectrodactyly-Cleft Palate Syndrome 
EEC syndrome +   
Emanuel Syndrome 
epidermolysis bullosa simplex Dowling-Meara type  
epidermolysis bullosa simplex generalized type  
epidermolysis bullosa simplex localized type  
epidermolysis bullosa simplex Ogna type  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
erythrokeratodermia variabilis et progressiva 1  
erythrokeratodermia variabilis et progressiva 2  
erythrokeratodermia variabilis et progressiva 3  
Euhidrotic Ectodermal Dysplasia 
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly 
Faciocardiomelic Dysplasia, Lethal 
Faciocardiorenal Syndrome 
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 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  
Feingold syndrome +   
Feingold Trainer Syndrome 
fibrodysplasia ossificans progressiva  
Fibula, Recurrent Dislocation of Head of 
Finnish type amyloidosis  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Fracture Dislocation +  
Frasier syndrome  
Frontonasal Dysplasia 3  
Fused Teeth 
Genito Palato Cardiac Syndrome 
giant axonal neuropathy 2  
Gordon Syndrome  
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Grubben de Cock Borghgraef 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 Dislocation  
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  
hypertelorism, microtia, facial clefting syndrome 
hypertension and brachydactyly syndrome  
hypochondroplasia  
Hypodontia Oligodontia with Orofacial Cleft 
Hypoglossia-Hypodactylia 
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  
hypophosphatasia +   
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
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 +   
Iida Kannari Syndrome 
IMMUNODEFICIENCY 31C  
inflammatory bowel disease 21 
inflammatory bowel disease 3 
intrahepatic cholestasis of pregnancy 1  
intrahepatic cholestasis of pregnancy 3  
iridogoniodysgenesis syndrome +   
isolated cleft palate  
isolated microphthalmia 7  
ITM2B-related cerebral amyloid angiopathy 1  
ITM2B-related cerebral amyloid angiopathy 2  
Jansen's metaphyseal chondrodysplasia  
juvenile glaucoma  
juvenile polyposis syndrome +   
Kallmann Syndrome 2 with Cleft Lip or Palate 
Kapur Toriello Syndrome 
KBG syndrome  
Knee Dislocation  
Kniest dysplasia  
Kuster Syndrome 
LADD syndrome  
Ladda Zonana Ramer syndrome 
Larsen syndrome  
An autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities. (DO)
Larsen-Like Syndromes +   
lattice corneal dystrophy +   
Leber congenital amaurosis 11  
Leber congenital amaurosis 13  
LEOPARD syndrome +   
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  
Lowry Maclean syndrome 
Lynch syndrome +   
macrocephaly-autism syndrome  
Macrosomia with Lethal Microphthalmia 
malignant hyperthermia +   
mandibulofacial dysostosis, Guion-Almeida type  
Martinez Monasterio Pinheiro Syndrome 
maturity-onset diabetes of the young +   
McPherson Clemens Syndrome 
Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps 
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation  
Meier-Gorlin syndrome 6  
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations  
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate 
Microtia, Hearing Impairment, and Cleft Palate  
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Miura type epiphyseal chondrodysplasia  
monilethrix +   
Mowat-Wilson syndrome  
Muckle-Wells syndrome  
Muenke syndrome  
multiple cutaneous and mucosal venous malformations  
Multiple Endocrine Neoplasia +   
multiple epiphyseal dysplasia 1  
multiple epiphyseal dysplasia 2  
multiple epiphyseal dysplasia 3  
multiple epiphyseal dysplasia 5  
multiple epiphyseal dysplasia 6  
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 +   
Nance-Horan syndrome  
Native American myopathy  
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 +   
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  
oculodentodigital dysplasia +   
Oculomaxillofacial Dysostosis  
Oculopalatocerebral Syndrome 
Oculoskeletodental Syndrome  
Oculotrichodysplasia 
Odontodysplasia +   
Odontomicronychial Dysplasia 
Odontotrichoungual-Digital-Palmar Syndrome 
Omphalocele, Cleft Palate Syndrome Lethal 
Opitz GBBB Syndrome, Type I  
Opitz GBBB Syndrome, Type II  
Oroacral Syndrome, Verloes-Koulischer Type 
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
Otodental Dysplasia 
ovarian dysgenesis 8  
pachyonychia congenita +   
Palant Cleft Palate Syndrome 
Pallister-Hall syndrome +   
PAPA syndrome  
paraganglioma +   
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 
Patella, Familial Recurrent Dislocation Of 
Patellar Dislocation +  
Pelger-Huet anomaly +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
permanent neonatal diabetes mellitus +   
Perry syndrome  
Peters plus syndrome  
Pfeiffer syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Piepkorn Karp Hickok syndrome 
Pilotto Syndrome 
Pitt-Hopkins syndrome +   
polycystic liver disease +   
popliteal pterygium syndrome +   
Postaxial Polydactyly, with Dental and Vertebral Anomalies 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
progressive familial heart block type IA  
progressive familial heart block type IB  
progressive familial heart block type II 
proximal symphalangism  
pseudoachondroplasia  
punctate palmoplantar keratoderma type III 
Raine 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  
Rodrigues Blindness 
Romano-Ward Syndrome  
Rosselli-Gulienetti Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
Sakoda Complex 
Samson Viljoen Syndrome 
Say 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 
Schrander-Stumpel Theunissen Hulsmans Syndrome 
sclerosteosis 2  
Selective Tooth Agenesis with Orofacial Cleft 
sepiapterin reductase deficiency  
Seres-Santamaria Arimany Muniz Syndrome 
Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting 
Shoulder Dislocation 
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  
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 
Spondyloepimetaphyseal Dysplasia with Joint Laxity +   
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation 
Stickler syndrome +   
Stormorken syndrome  
Supernumerary Tooth +  
Sweeney-Cox syndrome  
tarsal-carpal coalition syndrome  
Taurodontism +  
Taurodontism, Microdontia, and Dens Invaginatus 
Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 
Teeth, Odd Shapes of 
temtamy preaxial brachydactyly syndrome  
Thiel-Behnke corneal dystrophy  
Thomas Syndrome 
tibial muscular dystrophy  
Tietz syndrome  
Timothy syndrome  
tooth agenesis +   
torsion dystonia 1  
torsion dystonia 13 
torsion dystonia 4  
torsion dystonia 6  
torsion dystonia 7  
torsion dystonia with onset in infancy 
Townes-Brocks syndrome +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
Tricho-Dento-Osseous Syndrome 1 
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
ulnar-mammary syndrome  
uveal coloboma-cleft lip and palate-intellectual disability  
Van der Woude syndrome +   
Van der Woude Syndrome 2  
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION  
Waardenburg's syndrome +   
Weyers Acrofacial Dysostosis  
WHIM syndrome  
Worth's syndrome  
X-linked cleft palate with or without ankyloglossia  
Yim Ebbin Syndrome 
Zadik Barak Levin Syndrome 
Zazam Sheriff Phillips Syndrome 

Synonyms
Exact Synonyms: LRS ;   Larsen Syndrome, Autosomal Dominant ;   Larsen syndrome, dominant type ;   dominant Larsen syndrome
Related Synonyms: FLNB-related spectrum disorder ;   FLNB-related spectrum disorders
Primary IDs: MESH:C537873
Alternate IDs: OMIM:150250 ;   RDO:0003785
Xrefs: GARD:6860
Definition Sources: http://en.wikipedia.org/wiki/Larsen_syndrome, https://ghr.nlm.nih.gov/condition/larsen-syndrome

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