Disease Browser
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Parent Node: Musculoskeletal Abnormalities (D009139) |
..Starting node ..Craniofacial Abnormalities (D019465)
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Child Nodes:
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........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) |
Sister Nodes: |
..Absent patella (C535568)
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..ACROPECTOROVERTEBRAL DYSPLASIA (OMIM:102510)
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..Arthrogryposis (D001176) 55
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..Campomelic Dysplasia (D055036) 6
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..Cervical Rib Syndrome (D002573) 1
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..Chondrodysplasia, Grebe type (C537915)
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..Congenital absence of gluteal muscles (C535561)
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..Congenital absence of the sternocleidomastoid muscle (C535977)
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..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
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..Craniofacial Abnormalities (D019465) 685
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..Funnel Chest (D005660) 4
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..Gastroschisis (D020139) 1
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..Hajdu-Cheney Syndrome (D031845) 1
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..Hip Dislocation, Congenital (D006618) 12
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..Klippel-Feil Syndrome (D007714) 5
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..Larsen syndrome, recessive type (C537874)
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..Laryngomalacia (D055092) 1
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..Limb Deformities, Congenital (D017880) 495
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..Pectus Carinatum (D066166)
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..Pseudoarthrogryposis (C566753)
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..Pterygium, Antecubital (C566738)
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..Sacrococcygeal dysgenesis association (C537225)
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..Sternal cleft (C537489)
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..Synostosis (D013580) 150
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..Tracheobronchomalacia (D055089) 4
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..VACTERL Association With Hydrocephalus (C564751)
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..Widow's Peak Syndrome (C564040)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD
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