| Disease Browser
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Parent Node:
 Abnormalities, Multiple (D000015) |
Parent Node:
Chromosome Disorders (D025063) |
Parent Node:
Chromosome Duplication (D058674) |
Parent Node:
Facies (D019066) |
..Starting node
.. Chromosome 5p13 Duplication Syndrome (C567717)
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Child Nodes:
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Sister Nodes: |
..Al Gazali Aziz Salem syndrome (C535613)
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..Al Gazali Hirschsprung syndrome (C535615)
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..Anonychia-onychodystrophy with hypoplasia or absence of distal phalanges (C537766)
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..Aortic arch anomaly with peculiar facies and mental retardation (C537785)
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..Arthrogryposis, Distal, with Mental Retardation and Characteristic Facies (C565940)
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..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
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..AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
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..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
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..Beemer Ertbruggen syndrome (C537668)
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..Boomerang dysplasia (C536573)
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..Bowen syndrome (C538164)
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..Brachytelephalangy characteristic facies Kallmann (C537101)
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..Brooks-Wisniewski-Brown Syndrome (C563154)
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..Brunoni syndrome (C537408)
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..Burn-Mckeown syndrome (C537411)
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..C SYNDROME (OMIM:211750)
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..Cardiofaciocutaneous syndrome (C535579)
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..Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation (C563390)
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..Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type (C566137)
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..Chondrodysplasia, Megarbane-Dagher-Melki Type (C567644)
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..Chromosome 10q26 Deletion Syndrome (C567182)
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..Chromosome 5p13 Duplication Syndrome (C567717)
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..Chromosome Xq28 Duplication Syndrome (C567580)
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..Clark-Baraitser syndrome (C536208)
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..Cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss (C536427)
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..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
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..Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
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..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
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..Cree Mental Retardation Syndrome (C564654)
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..Crisponi syndrome (C536214)
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..Crumpled helices and small mouth (C536217)
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..Cubitus Valgus with Mental Retardation and Unusual Facies (C564510)
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..Cyprus facial neuromusculoskeletal syndrome (C536229)
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..Davis Lafer syndrome (C535989)
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..Deafness-Craniofacial Syndrome (C565118)
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..Der Kaloustian Mcintosh Silver syndrome (C538217)
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..Diabetes Mellitus, Permanent Neonatal, with Cerebellar Agenesis (C563796)
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..Dislocation of Hip, Congenital, with Hyperextensibility of Fingers and Facial Dysmorphism (C563315)
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..Disproportionate Short Stature with Ptosis and Valvular Heart Lesions (C565094)
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..Dubowitz syndrome (C535718)
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..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
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..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
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..Ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features (C536182)
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..Ectrodactyly cardiopathy dysmorphism (C536187)
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..Edinburgh Malformation Syndrome (C563051)
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..FACES syndrome (C536384)
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..Facial Dysmorphism with Multiple Malformations (C565579)
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..Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification (C567039)
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..Faciocardiomelic Syndrome (C567176)
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..Feingold Trainer syndrome (C536179)
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..Fibrochondrogenesis (C562524)
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..Fibromatosis, Gingival, with Distinctive Facies (C565567)
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..Filippi syndrome (C538152)
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..Fryns Macrocephaly (C563963)
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..Fryns syndrome (C538070)
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..Fryns-Aftimos Syndrome (C565258)
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..GELEOPHYSIC DYSPLASIA 1 (OMIM:231050)
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..Giacheti Syndrome (C567864)
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..Granddad Syndrome (C564211)
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..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
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..Growth mental deficiency syndrome of Myhre (C537620)
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..Growth Retardation, Developmental Delay, Coarse Facies, And Early Death (C567856)
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..Hadziselimovic Syndrome (C567850)
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..Haspeslagh Fryns Muelenaere syndrome (C535844)
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..Holoprosencephaly 10 (C567278)
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..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
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..Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphic Features (C567731)
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..Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
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..Hypotonia, Seizures, And Precocious Puberty (C567566)
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..Iris dysplasia hypertelorism deafness (C535537)
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..Irons Bhan syndrome (C535539)
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..Kahrizi Syndrome (C567196)
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..Kaufman oculocerebrofacial syndrome (C537013)
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..KBG syndrome (C537015)
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..Kozlowski Rafinski Klicharska syndrome (C537509)
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..Kozlowski-Krajewska syndrome (C537615)
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..Larsen-Like Syndrome (C563914)
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..Leri pleonosteosis (C537118)
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..Lichtenstein syndrome (C535894)
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..Lymphedema, Cardiac Septal Defects, And Characteristic Facies (C567398)
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..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
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..Macrocephaly Autism Syndrome (C565342)
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..Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
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..Malocclusion and Short Stature (C565421)
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..Marfanoid Mental Retardation Syndrome, Autosomal (C565410)
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..McDonough syndrome (C538158)
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..McPherson Clemens syndrome (C538160)
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..Mental Retardation, Buenos Aires Type (C563095)
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..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
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..Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations (C565248)
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..Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (C563586)
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..Microcephaly cervical spine fusion anomalies (C537325)
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..Microcephaly deafness syndrome (C537326)
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..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
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..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
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..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
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..Micromelic dysplasia, congenital, with dislocation of radius (C537557)
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..Mowat-Wilson syndrome (C536990)
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..Multiple Pterygium Syndrome, X-Linked (C564072)
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..NF1 Microduplication Syndrome (C567173)
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..Nicolaides Baraitser syndrome (C536116)
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..Night blindness skeletal anomalies unusual facies (C536121)
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..Omodysplasia 2 (C567664)
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..Oroacral Syndrome, Verloes-Koulischer Type (C566374)
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..Osteolysis syndrome recessive (C536052)
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..Otoonychoperoneal Syndrome (C564912)
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..Palant cleft palate syndrome (C538102)
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..Partington Anderson syndrome (C536299)
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..Pfeiffer Palm Teller syndrome (C537889)
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..Pierre Robin Sequence with Facial and Digital Anomalies (C564078)
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..Pitt-Hopkins syndrome (C537403)
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..Pituitary Hormone Deficiency, Combined, 1 (C567803)
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..Plantar Lipomatosis, Unusual Facies, and Developmental Delay (C566559)
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..Progeroid Facial Appearance with Hand Anomalies (C566563)
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..Radioulnar synostosis retinal pigment abnormalities (C536270)
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..Ramos Arroyo Clark syndrome (C535286)
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..Renal and Mullerian Duct Hypoplasia (C564853)
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..Renal dysplasia - limb defects syndrome (C537754)
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..Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies (C566918)
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..Robin Sequence with Distinctive Facial Appearance and Brachydactyly (C563880)
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..Roifman-Chitayat Syndrome (C567641)
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..Rudiger Syndrome (C562912)
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..Ruvalcaba Syndrome (C579395)
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..Schrander-Stumpel Theunissen Hulsmans syndrome (C536639)
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..Seckel Syndrome 3 (C563881)
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..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
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..Shprintzen omphalocele syndrome (C537329)
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..Spastic paraplegia 23 (C536859)
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..Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease (C566677)
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..Spinocerebellar Ataxia with Dysmorphism (C564802)
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..Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies (C564003)
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..Thakker Donnai syndrome (C536503)
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..Thomas Jewett Raines syndrome (C536513)
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..Thrombocytopenia Robin sequence (C536898)
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..Trichohepatoenteric Syndrome (C565627)
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..Trichorhinophalangeal Syndrome, Type III (C566033)
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..Urofacial syndrome (C536480)
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..Uruguay Faciocardiomusculoskeletal Syndrome (C564544)
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..White forelock with malformations (C536700)
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..Winter Harding Hyde syndrome (C536712)
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..Young Simpson syndrome (C536717)
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..Zechi-Ceide Syndrome (C567865)
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Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
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