| Disease Browser
|
Parent Node:
 Abnormalities, Multiple (D000015) |
Parent Node:
Chromosome Deletion (D002872) |
Parent Node:
Craniofacial Abnormalities (D019465) |
..Starting node
.. Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
|
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
|
