Disease Browser
Parent Node: Arthrogryposis (D001176) Parent Node: Craniofacial Abnormalities (D019465) ..Starting node .. Arthrogryposis multiplex congenita whistling face (C538401) Child Nodes:
Sister Nodes: ..22q11 Deletion Syndrome (D058165) 5 ..3C syndrome (C535313) ..Abidi X-linked mental retardation syndrome (C535556) ..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057) ..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570) ..Arthrogryposis multiplex congenita whistling face (C538401) ..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385) ..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386) ..Arthropathy, Erosive (C565273) ..Asymmetric Short Stature Syndrome (C566248) ..AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385) ..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500) ..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745) ..Baker Vinters syndrome (C537899) ..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357) ..Blepharochalasis And Double Lip (C562742) ..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797) ..Brachymesomelia renal syndrome (C537096) ..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100) ..Brachytelephalangy characteristic facies Kallmann (C537101) ..Branchial Cleft Anomalies (C562384) ..Calvarial hyperostosis (C537963) ..Camptodactyly syndrome Guadalajara type 2 (C537971) ..Cerebrofrontofacial Syndrome (C563904) ..Cerebrooculofacioskeletal Syndrome 2 (C565185) ..Cerebrooculofacioskeletal Syndrome 4 (C565184) ..Cerebrooculonasal Syndrome (C565313) ..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884) ..Chromosome 18 Pericentric Inversion (C563734) ..Chromosome 2p16.1-P15 Deletion Syndrome (C567289) ..Chromosome 2q31.2 Deletion Syndrome (C567344) ..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230) ..Chromosome Xq28 Duplication Syndrome (C567580) ..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427) ..Cleidocranial Dysplasia (D002973) 5 ..COCOON SYNDROME (OMIM:613630) ..CODAS syndrome (C536434) ..Combined Oxidative Phosphorylation Deficiency 2 (C566468) ..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822) ..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127) ..Costello Syndrome (D056685) ..COUSIN SYNDROME (OMIM:260660) ..Cranioacrofacial Syndrome (C565147) ..Craniodiaphyseal Dysplasia (C562940) ..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275) ..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271) ..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731) ..Craniofacial deafness hand syndrome (C536453) ..Craniofacial Dysostosis (D003394) 68 ..Craniofacial dyssynostosis (C536455) ..Craniofacioskeletal Syndrome (C567471) ..Craniofrontonasal dysplasia (C536456) ..Craniolenticulosutural Dysplasia (C564332) ..Craniomicromelic Syndrome (C566522) ..Craniorhiny (C565144) ..Craniosynostoses (D003398) 64 ..Curly hair-acral keratoderma-caries syndrome (C536220) ..Desbuquois syndrome (C535943) ..Diaphanospondylodysostosis (C564305) ..Digitorenocerebral Syndrome (C563052) ..Donohue Syndrome (D056731) 1 ..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293) ..Exchondrosis Of Pinna, Posterior (C565036) ..Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195) ..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524) ..Faciocardiomelic Syndrome (C567176) ..Fg Syndrome 5 (C564480) ..Floating-harbor syndrome (C537062) ..Forebrain Defects (C566067) ..Fountain syndrome (C537270) ..Fragile Site 16p12 (C565001) ..Fraser-Like Syndrome (C565562) ..Fronto-facio-nasal dysplasia (C538063) ..Frontonasal dysplasia (C538065) 3 ..Frontoocular Syndrome (C565340) ..Frontootopalatodigital Osteodysplasia (C567578) ..Fryns-Aftimos Syndrome (C565258) ..Game Friedman Paradice syndrome (C535406) ..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050) ..Genitopatellar Syndrome (C565255) ..Goldberg-Shprintzen megacolon syndrome (C537279) ..Gomez Lopez Hernandez syndrome (C537285) ..Gorlin Chaudhry Moss syndrome (C537290) ..Gracile bone dysplasia (C537291) ..Grant syndrome (C537293) ..Hall Riggs mental retardation syndrome (C535623) ..Hanhart syndrome (C535629) ..Harrod Doman Keele syndrome (C535635) ..Haspeslagh Fryns Muelenaere syndrome (C535844) ..Hecht Scott syndrome (C535856) ..Hennekam lymphangiectasia lymphedema syndrome (C537255) ..Holoprosencephaly (D016142) 22 ..Humeroradial Synostosis with Craniofacial Anomalies (C566888) ..Hypotonia-Cystinuria Syndrome (C564710) ..Ichthyosis cheek eyebrow syndrome (C536084) ..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860) ..Jequier Kozlowski skeletal dysplasia (C537569) ..Jones Hersh Yusk syndrome (C535885) ..Kapur Toriello syndrome (C537008) ..Kleefstra Syndrome (C563043) ..Kosztolanyi syndrome (C537024) ..Larsen syndrome, dominant type (C537873) ..Leichtman Wood Rohn syndrome (C537003) ..LEOPARD Syndrome (D044542) 2 ..LIG4 Syndrome (C564694) ..Loeys-Dietz Syndrome (D055947) 5 ..Lujan Fryns syndrome (C537724) ..Malpuech facial clefting syndrome (C535704) ..Mandibuloacral dysplasia with type B lipodystrophy (C535706) ..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744) ..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520) ..Marshall syndrome (C536025) ..Marshall-Smith syndrome (C536026) ..Maxillofacial Abnormalities (D019767) 169 ..Megalencephaly (D058627) 23 ..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810) ..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246) ..Microcephaly (D008831) 140 ..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361) ..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370) ..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896) ..Morillo-Cucci Passarge syndrome (C536983) ..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845) ..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829) ..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345) ..Nablus mask-like facial syndrome (C536110) ..Neurofaciodigitorenal syndrome (C537388) ..NF1 Microdeletion Syndrome (C563524) ..Noonan Syndrome (D009634) 12 ..Oculoauriculofrontonasal syndrome (C537865) ..Oculocerebral hypopigmentation syndrome type Preus (C537866) ..Oculodentodigital Dysplasia (C563160) ..Oculodentodigital Dysplasia, Autosomal Recessive (C567605) ..Oculootofacial Dysplasia (C563682) ..Orbital Margin, Hypoplasia of (C563490) ..Orofaciodigital Syndromes (D009958) 14 ..Oto-Palato-digital syndrome type 1 (C536065) ..Oto-palato-digital syndrome, type 2 (C538089) ..Otocephaly (C562503) ..Otofacioosseous-Gonadal Syndrome (C566597) ..Otopalatodigital Spectrum Disorder (C567577) ..Pallister W syndrome (C538106) ..Pashayan syndrome (C536303) ..Pitt-Hopkins-Like Syndrome 1 (C567657) ..Plagiocephaly (D059041) 66 ..Platybasia (D010985) 1 ..Pointer syndrome (C536323) ..Potato nose (C538354) ..Preauricular Fistulae, Congenital (C563015) ..Prieto X-linked mental retardation syndrome (C535274) ..Pseudoaminopterin syndrome (C535823) ..Reardon Hall Slaney syndrome (C535294) ..Riddle Syndrome (C567453) ..Roberts Syndrome (C535687) ..Robinow Syndrome, Autosomal Dominant (C562492) ..Rommen Mueller Sybert syndrome (C535871) ..Rozin Hertz Goodman syndrome (C535876) ..Rubinstein-Taybi Syndrome (D012415) 2 ..Say Meyer syndrome (C536620) ..SCARF syndrome (C536625) ..Schaefer Stein Oshman syndrome (C536627) ..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509) ..Schinzel-Giedion syndrome (C536632) ..Schwartz-Lelek syndrome (C537519) ..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262) ..Seaver Cassidy syndrome (C537529) ..Seckel like syndrome type Buebel (C537532) ..Sener syndrome (C537579) ..Short Stature And Facioauriculothoracic Malformations (C566457) ..Short Stature-Obesity Syndrome (C564821) ..Silver-Russell Syndrome (D056730) 1 ..Simosa cranio facial syndrome (C537339) ..Sonoda syndrome (C536680) ..Splenogonadal fusion limb defects micrognatia (C537318) ..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558) ..Spondyloocular Syndrome, Autosomal Recessive (C565285) ..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177) ..Teebi Shaltout syndrome (C536950) ..Teebi syndrome (C536951) ..Telecanthus (C562941) ..Temtamy syndrome (C536959) ..Ter Haar syndrome (C537274) ..Tetrasomy X (C536502) ..Tollner Horst Manzke syndrome (C536964) ..Tricho-dento-osseous syndrome (C536549) ..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320) ..Urioste Martinez-Frias syndrome (C536478) ..Van Bogaert-Hozay syndrome (C536526) ..Van Buchem disease type 2 (C536527) ..Van Maldergem Wetzburger Verloes syndrome (C536530) ..Vertebral body fusion overgrowth (C536543) ..Viljoen Kallis Voges syndrome (C536349) ..Weaver syndrome (C536687) ..Weaver-Like Syndrome (C562443) ..Wiedemann Grosse Dibbern syndrome (C536704) ..Winter Shortland Temple syndrome (C536735) ..Zimmerman Laband syndrome (C536725) Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM , CTD