| Disease Browser
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Parent Node:
 Bone Diseases, Developmental (D001848) |
Parent Node:
Craniofacial Abnormalities (D019465) |
..Starting node
.. Craniolenticulosutural Dysplasia (C564332)
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Child Nodes:
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Sister Nodes: |
..22q11 Deletion Syndrome (D058165)  5
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..3C syndrome (C535313)
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..Abidi X-linked mental retardation syndrome (C535556)
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..Alopecia, epilepsy, pyorrhea, mental subnormality (C537057)
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..Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis (C564570)
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..Arthrogryposis multiplex congenita whistling face (C538401)
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..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
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..Arthrogryposis-like hand anomaly and sensorineural deafness (C535386)
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..Arthropathy, Erosive (C565273)
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..Asymmetric Short Stature Syndrome (C566248)
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..AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
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..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
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..B-Cell Immunodeficiency, Distal Limb Anomalies, And Urogenital Malformations (C563745)
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..Baker Vinters syndrome (C537899)
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..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
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..Blepharochalasis And Double Lip (C562742)
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..Blepharophimosis with Facial and Genital Anomalies and Mental Retardation (C565797)
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..Brachymesomelia renal syndrome (C537096)
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..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
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..Brachytelephalangy characteristic facies Kallmann (C537101)
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..Branchial Cleft Anomalies (C562384)
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..Calvarial hyperostosis (C537963)
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..Camptodactyly syndrome Guadalajara type 2 (C537971)
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..Cerebrofrontofacial Syndrome (C563904)
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..Cerebrooculofacioskeletal Syndrome 2 (C565185)
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..Cerebrooculofacioskeletal Syndrome 4 (C565184)
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..Cerebrooculonasal Syndrome (C565313)
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..CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
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..Chromosome 18 Pericentric Inversion (C563734)
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..Chromosome 2p16.1-P15 Deletion Syndrome (C567289)
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..Chromosome 2q31.2 Deletion Syndrome (C567344)
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..CHROMOSOME 8q21.11 DELETION SYNDROME (OMIM:614230)
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..Chromosome Xq28 Duplication Syndrome (C567580)
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..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
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..Cleidocranial Dysplasia (D002973) 5
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..COCOON SYNDROME (OMIM:613630)
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..CODAS syndrome (C536434)
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..Combined Oxidative Phosphorylation Deficiency 2 (C566468)
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..Congenital Cataracts, Facial Dysmorphism, And Neuropathy (C565822)
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..Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence (C563127)
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..Costello Syndrome (D056685)
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..COUSIN SYNDROME (OMIM:260660)
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..Cranioacrofacial Syndrome (C565147)
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..Craniodiaphyseal Dysplasia (C562940)
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..Craniodiaphyseal Dysplasia, Autosomal Dominant (C567275)
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..Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation (C564271)
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..Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells (C565731)
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..Craniofacial deafness hand syndrome (C536453)
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..Craniofacial Dysostosis (D003394) 68
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..Craniofacial dyssynostosis (C536455)
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..Craniofacioskeletal Syndrome (C567471)
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..Craniofrontonasal dysplasia (C536456)
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..Craniolenticulosutural Dysplasia (C564332)
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..Craniomicromelic Syndrome (C566522)
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..Craniorhiny (C565144)
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..Craniosynostoses (D003398) 64
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..Curly hair-acral keratoderma-caries syndrome (C536220)
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..Desbuquois syndrome (C535943)
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..Diaphanospondylodysostosis (C564305)
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..Digitorenocerebral Syndrome (C563052)
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..Donohue Syndrome (D056731) 1
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..Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism (C563293)
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..Exchondrosis Of Pinna, Posterior (C565036)
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..Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (C567195)
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..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
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..Faciocardiomelic Syndrome (C567176)
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..Fg Syndrome 5 (C564480)
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..Floating-harbor syndrome (C537062)
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..Forebrain Defects (C566067)
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..Fountain syndrome (C537270)
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..Fragile Site 16p12 (C565001)
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..Fraser-Like Syndrome (C565562)
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..Fronto-facio-nasal dysplasia (C538063)
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..Frontonasal dysplasia (C538065) 3
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..Frontoocular Syndrome (C565340)
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..Frontootopalatodigital Osteodysplasia (C567578)
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..Fryns-Aftimos Syndrome (C565258)
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..Game Friedman Paradice syndrome (C535406)
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..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
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..Genitopatellar Syndrome (C565255)
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..Goldberg-Shprintzen megacolon syndrome (C537279)
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..Gomez Lopez Hernandez syndrome (C537285)
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..Gorlin Chaudhry Moss syndrome (C537290)
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..Gracile bone dysplasia (C537291)
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..Grant syndrome (C537293)
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..Hall Riggs mental retardation syndrome (C535623)
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..Hanhart syndrome (C535629)
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..Harrod Doman Keele syndrome (C535635)
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..Haspeslagh Fryns Muelenaere syndrome (C535844)
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..Hecht Scott syndrome (C535856)
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..Hennekam lymphangiectasia lymphedema syndrome (C537255)
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..Holoprosencephaly (D016142) 22
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..Humeroradial Synostosis with Craniofacial Anomalies (C566888)
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..Hypotonia-Cystinuria Syndrome (C564710)
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..Ichthyosis cheek eyebrow syndrome (C536084)
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..IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (OMIM:242860)
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..Jequier Kozlowski skeletal dysplasia (C537569)
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..Jones Hersh Yusk syndrome (C535885)
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..Kapur Toriello syndrome (C537008)
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..Kleefstra Syndrome (C563043)
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..Kosztolanyi syndrome (C537024)
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..Larsen syndrome, dominant type (C537873)
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..Leichtman Wood Rohn syndrome (C537003)
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..LEOPARD Syndrome (D044542) 2
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..LIG4 Syndrome (C564694)
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..Loeys-Dietz Syndrome (D055947) 5
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..Lujan Fryns syndrome (C537724)
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..Malpuech facial clefting syndrome (C535704)
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..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
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..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
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..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
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..Marshall syndrome (C536025)
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..Marshall-Smith syndrome (C536026)
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..Maxillofacial Abnormalities (D019767) 169
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..Megalencephaly (D058627) 23
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..Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature (C563810)
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..Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism (C565246)
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..Microcephaly (D008831) 140
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..Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation (C566361)
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..Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies (C564370)
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..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
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..Morillo-Cucci Passarge syndrome (C536983)
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..MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM (OMIM:300845)
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..Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency (C563829)
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..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
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..Nablus mask-like facial syndrome (C536110)
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..Neurofaciodigitorenal syndrome (C537388)
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..NF1 Microdeletion Syndrome (C563524)
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..Noonan Syndrome (D009634) 12
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..Oculoauriculofrontonasal syndrome (C537865)
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..Oculocerebral hypopigmentation syndrome type Preus (C537866)
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..Oculodentodigital Dysplasia (C563160)
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..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
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..Oculootofacial Dysplasia (C563682)
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..Orbital Margin, Hypoplasia of (C563490)
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..Orofaciodigital Syndromes (D009958) 14
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..Oto-Palato-digital syndrome type 1 (C536065)
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..Oto-palato-digital syndrome, type 2 (C538089)
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..Otocephaly (C562503)
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..Otofacioosseous-Gonadal Syndrome (C566597)
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..Otopalatodigital Spectrum Disorder (C567577)
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..Pallister W syndrome (C538106)
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..Pashayan syndrome (C536303)
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..Pitt-Hopkins-Like Syndrome 1 (C567657)
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..Plagiocephaly (D059041) 66
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..Platybasia (D010985) 1
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..Pointer syndrome (C536323)
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..Potato nose (C538354)
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..Preauricular Fistulae, Congenital (C563015)
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..Prieto X-linked mental retardation syndrome (C535274)
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..Pseudoaminopterin syndrome (C535823)
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..Reardon Hall Slaney syndrome (C535294)
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..Riddle Syndrome (C567453)
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..Roberts Syndrome (C535687)
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..Robinow Syndrome, Autosomal Dominant (C562492)
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..Rommen Mueller Sybert syndrome (C535871)
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..Rozin Hertz Goodman syndrome (C535876)
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..Rubinstein-Taybi Syndrome (D012415) 2
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..Say Meyer syndrome (C536620)
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..SCARF syndrome (C536625)
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..Schaefer Stein Oshman syndrome (C536627)
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..Schilbach-Rott Syndrome Ocular Hypotelorism, Submucosal Cleft Palate, and Hypospadias (C563509)
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..Schinzel-Giedion syndrome (C536632)
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..Schwartz-Lelek syndrome (C537519)
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..Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities (C564262)
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..Seaver Cassidy syndrome (C537529)
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..Seckel like syndrome type Buebel (C537532)
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..Sener syndrome (C537579)
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..Short Stature And Facioauriculothoracic Malformations (C566457)
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..Short Stature-Obesity Syndrome (C564821)
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..Silver-Russell Syndrome (D056730) 1
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..Simosa cranio facial syndrome (C537339)
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..Sonoda syndrome (C536680)
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..Splenogonadal fusion limb defects micrognatia (C537318)
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..Spondyloepimetaphyseal Dysplasia, Aggrecan Type (C567558)
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..Spondyloocular Syndrome, Autosomal Recessive (C565285)
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..Stickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
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..Teebi Shaltout syndrome (C536950)
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..Teebi syndrome (C536951)
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..Telecanthus (C562941)
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..Temtamy syndrome (C536959)
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..Ter Haar syndrome (C537274)
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..Tetrasomy X (C536502)
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..Tollner Horst Manzke syndrome (C536964)
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..Tricho-dento-osseous syndrome (C536549)
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..TRICHODENTOOSSEOUS SYNDROME (OMIM:190320)
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..Urioste Martinez-Frias syndrome (C536478)
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..Van Bogaert-Hozay syndrome (C536526)
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..Van Buchem disease type 2 (C536527)
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..Van Maldergem Wetzburger Verloes syndrome (C536530)
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..Vertebral body fusion overgrowth (C536543)
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..Viljoen Kallis Voges syndrome (C536349)
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..Weaver syndrome (C536687)
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..Weaver-Like Syndrome (C562443)
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..Wiedemann Grosse Dibbern syndrome (C536704)
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..Winter Shortland Temple syndrome (C536735)
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..Zimmerman Laband syndrome (C536725)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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