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

Ontology Browser

Term:
WEISS-KRUSZKA SYNDROME (DOID:9005848)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
22q11 Deletion Syndrome +   
3MC syndrome +   
3MC syndrome 3  
3p deletion syndrome 
46,XX sex reversal 2  
46,XX sex reversal 4 
46,XY sex reversal 10  
46,XY sex reversal 3 
46,XY sex reversal 6  
46,XY sex reversal 9  
abdominal obesity-metabolic syndrome +   
ablepharon macrostomia syndrome  
Abuse Dwarfism Syndrome 
achondrogenesis type II  
acrofacial dysostosis Cincinnati type  
acrokeratosis verruciformis  
adermatoglyphia  
ADULT syndrome  
adult-onset autosomal dominant demyelinating leukodystrophy  
adult-onset leukoencephalopathy with axonal spheroids and pigmented glia  
advanced sleep phase syndrome +   
agammaglobulinemia 5  
AGAT deficiency  
age related macular degeneration +   
Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence 
Al Gazali Sabrinathan Nair 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  
Andersen-Tawil syndrome  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
ankylosing spondylitis 2 
ankyrin-B-related cardiac arrhythmia  
anterior segment dysgenesis +   
anterior segment dysgenesis 1  
anterior segment dysgenesis 4  
aplasia of lacrimal and salivary glands  
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, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development  
Asymmetric Short Stature Syndrome 
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  
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 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 vitreoretinochoroidopathy  
autosomal dominant Wolfram syndrome  
autosomal dominant woolly hair  
Axenfeld-Rieger syndrome +   
Axenfeld-Rieger syndrome type 1  
Ayme-Gripp syndrome  
B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations 
Bagatelle Cassidy syndrome 
Bainbridge-Ropers Syndrome  
Baker Vinters Syndrome 
Bannayan-Riley-Ruvalcaba syndrome  
Baraitser-Winter syndrome +   
Bart-Pumphrey syndrome  
Beare-Stevenson cutis gyrata syndrome  
Beaulieu-Boycott-Innes 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 
blue color blindness  
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome  
Bothnian type palmoplantar keratoderma  
Brachycephaly, Trichomegaly, and Developmental Delay  
brachydactyly type A1 +   
brachydactyly type A2  
brachydactyly type C  
brachydactyly type D  
brachydactyly-syndactyly syndrome  
Brachymesomelia Renal Syndrome 
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  
Brugada syndrome 1  
Brugada syndrome 7  
Brugada syndrome 9  
bullous congenital ichthyosiform erythroderma  
Buschke-Ollendorff syndrome  
C syndrome  
CADASIL 1  
CADASIL 2  
Calvarial Hyperostosis 
campomelic dysplasia +   
Camptodactyly Syndrome Guadalajara Type 2 
cardiofaciocutaneous syndrome 1  
cardiofaciocutaneous syndrome 2  
cardiofaciocutaneous syndrome 3  
cardiofaciocutaneous syndrome 4  
Carney complex +   
Carney-Stratakis syndrome  
cataract 47  
CEBALID SYNDROME  
ceft palate, cardiac defects, and intellectual disabillity  
Cerebellar Atrophy with Seizures and Variable Developmental Delay  
CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES  
cerebellar hypoplasia +   
Cerebellar, Ocular, Craniofacial, and Genital Syndrome  
Cerebellofaciodental 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 1G  
Charcot-Marie-Tooth disease type 2A1  
Charcot-Marie-Tooth disease type 2A2A  
Charcot-Marie-Tooth disease type 2B  
Charcot-Marie-Tooth disease type 2D  
Charcot-Marie-Tooth disease type 2DD  
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 Moore Del Bigio Syndrome 
CHITAYAT SYNDROME  
Chitty Hall Webb Syndrome 
Chondrodysplasia, Megarbane-Dagher-Melki Type  
chromosome 13q14 deletion syndrome  
chromosome 15q11.2 deletion syndrome  
chromosome 15q24 deletion syndrome  
chromosome 15q25 deletion syndrome 
chromosome 17p13.1 deletion syndrome 
chromosome 17p13.3 duplication syndrome  
chromosome 17q11.2 deletion syndrome, 1.4Mb  
chromosome 17q12 deletion syndrome  
Chromosome 18 Pericentric Inversion 
chromosome 18p deletion syndrome 
chromosome 18q deletion syndrome  
chromosome 19p13.13 deletion syndrome 
chromosome 19q13.11 deletion syndrome 
chromosome 2p16.1-p15 deletion syndrome 
chromosome 2q31.2 deletion syndrome 
chromosome 3q29 microdeletion syndrome 
chromosome 8q21.11 deletion syndrome 
chromosome Xp11.23-p11.22 duplication 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 +   
Clouston syndrome  
cocoon syndrome  
CODAS syndrome  
Cohen syndrome  
COL4A1-related familial vascular leukoencephalopathy  
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 contractural arachnodactyly  
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 Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
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  
congenital vertical talus  
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 
Currarino syndrome  
D-2-hydroxyglutaric aciduria 2  
dehydrated hereditary stomatocytosis 1  
dehydrated hereditary stomatocytosis 2  
Denys-Drash syndrome  
Der Kaloustian Mcintosh Silver Syndrome 
dermatopathia pigmentosa reticularis  
Desanto-Shinawi Syndrome  
Desbuquois dysplasia +   
DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM  
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES  
dextro-looped transposition of the great arteries 1  
dextro-looped transposition of the great arteries 3  
Diaphanospondylodysostosis  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
diffuse cystic renal 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  
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome  
distal arthrogryposis type 10 
distal arthrogryposis type 1A  
distal arthrogryposis type 1B  
distal arthrogryposis type 2A  
distal arthrogryposis type 2B1  
distal arthrogryposis type 2B2  
distal arthrogryposis type 2B3  
distal arthrogryposis type 3  
distal arthrogryposis type 5  
distal arthrogryposis type 6 
distal arthrogryposis type 7  
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  
DOORS syndrome  
Doyne honeycomb retinal dystrophy  
Duane-radial ray syndrome  
Dyskinesias, Seizures, and Intellectual Developmental Disorder  
dysplastic nevus syndrome +   
dystonia 12  
dystonia 21 
dystonia 23  
dystonia 24  
dystonia 25  
dystonia 5  
dystonia 9  
ectodermal dysplasia 10A  
ectodermal dysplasia 11A  
ectodermal dysplasia 12  
Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism  
EEC 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  
episodic kinesigenic dyskinesia 1  
episodic kinesigenic dyskinesia 2 
epithelial recurrent erosion dystrophy  
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 
familial adenomatous polyposis 1  
familial adult myoclonic epilepsy 1  
familial adult myoclonic epilepsy 2  
familial adult myoclonic epilepsy 3  
familial adult myoclonic epilepsy 4  
familial adult myoclonic epilepsy 6  
familial adult myoclonic epilepsy 7  
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 episodic pain syndrome 1  
familial episodic pain syndrome 2  
familial episodic pain syndrome 3  
familial erythrocytosis 1  
familial erythrocytosis 3  
familial erythrocytosis 5  
familial expansile osteolysis  
familial hypocalciuric hypercalcemia +   
familial male-limited precocious puberty  
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  
Feingold syndrome +   
FG Syndrome 5 
fibrodysplasia ossificans progressiva  
Finnish type amyloidosis  
Floating-Harbor syndrome  
focal nonepidermolytic palmoplantar keratoderma 1  
focal nonepidermolytic palmoplantar keratoderma 2  
focal or diffuse nonepidermolytic palmoplantar keratoderma  
focal segmental glomerulosclerosis 1  
focal segmental glomerulosclerosis 2  
focal segmental glomerulosclerosis 5  
focal segmental glomerulosclerosis 7  
focal segmental glomerulosclerosis 8  
Forebrain Defects  
Forsythe-Wakeling Syndrome 
Fountain Syndrome 
Fragile Site 16p12 
Frank-Ter Haar syndrome  
Fraser-Like Syndrome 
Frasier syndrome  
Fronto-Facio-Nasal Dysplasia 
frontometaphyseal dysplasia 2  
Frontonasal Dysplasia +   
Frontoocular Syndrome 
Frontootopalatodigital Osteodysplasia 
Game Friedman Paradice Syndrome 
geleophysic dysplasia +   
geleophysic dysplasia 2  
geleophysic dysplasia 3  
Genitopatellar Syndrome  
giant axonal neuropathy 2  
GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT  
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES  
Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor  
Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine  
gnathodiaphyseal dysplasia  
Goldberg-Shprintzen syndrome  
Gomez Lopez Hernandez Syndrome 
Gorlin Chaudhry Moss Syndrome 
Gracile Bone Dysplasia  
Grant Syndrome 
granular corneal dystrophy +   
Greig cephalopolysyndactyly syndrome  
GRN-related frontotemporal lobar degeneration with TDP43 inclusions  
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death  
Grubben de Cock Borghgraef Syndrome 
Guttmacher syndrome  
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 mixed polyposis syndrome 2  
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  
Heyn-Sproul-Jackson Syndrome  
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  
hypermethioninemia due to adenosine kinase deficiency  
Hypertelorism +   
hypertension and brachydactyly syndrome  
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  
hypophosphatemic nephrolithiasis/osteoporosis 1  
hypophosphatemic nephrolithiasis/osteoporosis 2  
HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT  
hypoplastic or aplastic tibia with polydactyly  
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
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 +   
Immunodeficiency 31C  
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA  
immunodeficiency-centromeric instability-facial anomalies syndrome +   
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  
infantile or early childhood epileptic encephalopathy 1 +   
infantile or early childhood epileptic encephalopathy 2 +   
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 
Juberg Hayward Syndrome 
juvenile glaucoma  
juvenile polyposis syndrome +   
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  
Kapur Toriello Syndrome 
Kat6a Syndrome  
Keppen-Lubinsky Syndrome  
Kleefstra syndrome +   
Kleefstra syndrome 1  
Kleefstra syndrome 2  
Klippel-Feil syndrome 1  
Klippel-Feil syndrome 3  
Klippel-Feil syndrome 4  
Kniest dysplasia  
Kosztolanyi Syndrome 
LADD syndrome  
Lamb-Shaffer Syndrome  
Larsen syndrome  
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 +   
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 4  
long QT syndrome 5  
long QT syndrome 6  
long QT syndrome 9  
Loucks-Innes Syndrome  
Lujan Fryns Syndrome  
Luscan-Lumish syndrome  
lymphedema-distichiasis syndrome +   
Lynch syndrome +   
Macrocephaly +   
macrocephaly-autism 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  
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 
metachondromatosis  
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome  
metatropic dysplasia  
microcephaly +   
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation  
Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum  
Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation 
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME  
Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 
microcephaly, seizures, and developmental delay  
Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies 
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller-Dieker lissencephaly syndrome  
mitochondrial DNA depletion syndrome 12a  
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay  
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 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 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 
Naegeli-Franceschetti-Jadassohn 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 +   
neurofibromatosis-Noonan syndrome  
neurogenic scapuloperoneal syndrome Kaeser type  
neurooculocardiogenitourinary syndrome  
nevoid basal cell carcinoma syndrome +   
NFIA-related disorder  
Non-Lissencephalic Cortical Dysplasia 
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  
Obesity, Hyperphagia, and Developmental Delay  
oblique facial clefting 1  
ocular albinism with sensorineural deafness  
Oculoauriculofrontonasal syndrome 
Oculocerebral Hypopigmentation Syndrome Type Preus 
oculodentodigital dysplasia +   
Oculootofacial Dysplasia +   
Ogden syndrome  
Oliver-McFarlane syndrome  
Opitz GBBB Syndrome, Type II  
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 +   
osteogenesis imperfecta type 1  
osteogenesis imperfecta type 2 +   
osteogenesis imperfecta type 3  
osteogenesis imperfecta type 4  
osteogenesis imperfecta type 5  
osteoglophonic dysplasia  
Osteosclerotic Metaphyseal Dysplasia  
Otofacioosseous-Gonadal Syndrome 
otopalatodigital syndrome spectrum disorder +   
ovarian dysgenesis 8  
overhydrated hereditary stomatocytosis  
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES  
pachyonychia congenita +   
Pallister W Syndrome 
Pallister-Hall syndrome +   
palmoplantar keratoderma-deafness syndrome  
palmoplantar keratoderma-esophageal carcinoma syndrome  
pancreatic hypoplasia-diabetes-congenital heart disease syndrome  
PAPA syndrome  
paraganglioma +   
paramyotonia congenita of Von Eulenburg  
parastremmatic dwarfism  
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 extreme pain disorder  
paroxysmal nonkinesigenic dyskinesia 1  
paroxysmal nonkinesigenic dyskinesia 2 
Partington Anderson Syndrome 
Pashayan Syndrome 
Pelger-Huet anomaly +   
Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay  
permanent neonatal diabetes mellitus +   
Perry syndrome  
Pfeiffer syndrome  
photosensitive trichothiodystrophy +   
piebaldism +   
Pierpont syndrome  
pigmented paravenous chorioretinal atrophy  
Pitt-Hopkins syndrome +   
Plagiocephaly +   
Platybasia +  
Pointer Syndrome 
polycystic liver disease +   
popliteal pterygium syndrome +   
Posterior Exchondrosis of Pinna 
posterior polymorphous corneal dystrophy 1  
posterior polymorphous corneal dystrophy 2  
Potato Nose 
Preauricular Fistulae, Congenital 
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 osseous heteroplasia  
proprotein convertase 1/3 deficiency  
proximal symphalangism  
Pseudo-TORCH Syndrome +   
pseudoachondroplasia  
Pseudoaminopterin Syndrome 
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism  
punctate palmoplantar keratoderma type III 
Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies  
Rajab Syndrome  
Rapp-Hodgkin syndrome  
Reardon Hall Slaney syndrome 
Refsum Disease with Increased Pipecolic Acidemia 
renal coloboma syndrome  
retinal arterial tortuosity  
retinal vasculopathy with cerebral leukodystrophy  
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 Short Stature with Microcephaly, Micrognathia, and Developmental Delay  
Riddle syndrome  
ring dermoid of cornea  
Ritscher-Schinzel syndrome +   
Roberts syndrome  
Robinow syndrome +   
Roifman-Chitayat Syndrome 
Romano-Ward Syndrome  
Rommen Mueller Sybert Syndrome 
Rozin Hertz Goodman Syndrome 
Rubinstein-Taybi syndrome +   
SADDAN  
Saethre-Chotzen syndrome  
Saul-Wilson syndrome  
Say Meyer Syndrome 
SC phocomelia syndrome  
scalp-ear-nipple syndrome  
scapuloperoneal spinal muscular atrophy  
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 
Schopf-Schulz-Passarge syndrome  
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  
severe congenital neutropenia 1  
Short Stature and Facioauriculothoracic Malformations 
Short Stature, Developmental Delay, and Congenital Heart Defects  
Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies  
Short Stature-Obesity Syndrome 
SHORT syndrome  
SIDDIQI SYNDROME  
sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay  
Silver-Russell syndrome +   
Simosa Cranio Facial Syndrome 
Smith-Kingsmore Syndrome  
SNIJDERS BLOK-FISHER SYNDROME  
snowflake vitreoretinal degeneration  
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 muscular atrophy with lower extremity predominance +   
Splenogonadal Fusion Limb Defects Micrognatia 
split hand-foot malformation 1  
split hand-foot malformation 4  
Spondyloepimetaphyseal Dysplasia, Aggrecan Type  
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type  
spondyloepimetaphyseal dysplasia, Missouri type  
spondyloepimetaphyseal dysplasia, Strudwick type  
spondyloepiphyseal dysplasia congenita  
spondyloepiphyseal dysplasia Maroteaux type  
spondylometaphyseal dysplasia Kozlowski type  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler syndrome +   
stiff skin syndrome  
Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay 
STING-associated vasculopathy with onset in infancy  
Stormorken syndrome  
succinic semialdehyde dehydrogenase deficiency  
Sweeney-Cox syndrome  
syndromic X-linked intellectual disability Abidi type 
tarsal-carpal coalition syndrome  
Teebi Shaltout Syndrome 
Teebi Syndrome 
Telecanthus +   
Temtamy syndrome  
Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities 
Tetrasomy X 
Thiel-Behnke corneal dystrophy  
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 +   
transthyretin amyloidosis  
Treacher Collins syndrome +   
trichodontoosseous syndrome  
trichorhinophalangeal syndrome type I  
trichorhinophalangeal syndrome type II  
trichorhinophalangeal syndrome type III  
tuberous sclerosis +   
Turnpenny-Fry Syndrome  
type 1 diabetes mellitus 2  
Ullrich congenital muscular dystrophy +   
ulnar-mammary syndrome  
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
Urioste Martinez-Frias Syndrome 
uveal coloboma-cleft lip and palate-intellectual disability  
Van Bogaert-Hozay Syndrome 
Van Maldergem syndrome +   
Verheij Syndrome  
vertebral anomalies and variable endocrine and T-cell dysfunction  
Vertebral Body Fusion Overgrowth 
VERVERI-BRADY SYNDROME  
Viljoen Kallis Voges Syndrome 
Vohwinkel syndrome  
Waardenburg's syndrome +   
Weaver syndrome  
WEISS-KRUSZKA SYNDROME  
An autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose.
Weyers acrofacial dysostosis  
WHIM syndrome  
White-Sutton syndrome  
Wiedemann Grosse Dibbern Syndrome 
Winter Shortland Temple Syndrome  
Worth's syndrome  
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities  
Zimmerman Laband Syndrome +   

Synonyms
Exact Synonyms: WSKA
Primary IDs: OMIM:618619
Definition Sources: OMIM:618619

paths to the root

NHLBI Logo

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