Disease browser and phenotype portal

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MSeqDR-LSDB
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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Dysostoses (D004413)
Parent Node: Musculoskeletal Abnormalities (D009139)
..Starting node ..Synostosis (D013580)
Child Nodes:
........Antley-Bixler Syndrome Phenotype (D054882) 2
........Banki Syndrome (C566228)
........Coronal synostosis, syndactyly and jejunal atresia (C536445)
........Craniosynostoses (D003398) 64
........Der Kaloustian Mcintosh Silver syndrome (C538217)
........Humeroradial Multiple Synostosis Syndrome (C565509)
........Humeroradial Synostosis with Craniofacial Anomalies (C566888)
........Jorgenson Lenz syndrome (C536292)
........Mesomelia-synostoses syndrome (C537348)
........MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
........Multiple synostoses syndrome 2 (C537380)
........Multiple Synostoses Syndrome 3 (C567839)
........NOG-Related-Symphalangism Spectrum Disorder (C536943)
........Patella aplasia, coxa vara, tarsal synostosis (C536307)
........Prata Libéral Gonçalves syndrome (C538277)
........Radioulnar Synostosis (C562408)
........Radioulnar synostosis retinal pigment abnormalities (C536270)
........Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia (C565328)
........Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male (C564557)
........Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
........Ramer Ladda syndrome (C535284)
........Spondylocarpotarsal synostosis (C535780)
........Symphalangism of Toes (C566101)
........Symphalangism with Multiple Anomalies of Hands and Feet (C566098)
........Syndactyly (D013576) 69
........Synostoses, tarsal, carpal, and digital (C538156)
........Synostosis of Talus and Calcaneus with Short Stature (C566089)
........Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly (C566090)
........Tsukahara Syndrome (C566376)
Sister Nodes:
..Absent patella (C535568)
..ACROPECTOROVERTEBRAL DYSPLASIA (OMIM:102510)
..Arthrogryposis (D001176) 55
..Campomelic Dysplasia (D055036) 6
..Cervical Rib Syndrome (D002573) 1
..Chondrodysplasia, Grebe type (C537915)
..Congenital absence of gluteal muscles (C535561)
..Congenital absence of the sternocleidomastoid muscle (C535977)
..Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi (C567863)
..Craniofacial Abnormalities (D019465) 685
..Funnel Chest (D005660) 4
..Gastroschisis (D020139) 1
..Hajdu-Cheney Syndrome (D031845) 1
..Hip Dislocation, Congenital (D006618) 12
..Klippel-Feil Syndrome (D007714) 5
..Larsen syndrome, recessive type (C537874)
..Laryngomalacia (D055092) 1
..Limb Deformities, Congenital (D017880) 495
..Pectus Carinatum (D066166)
..Pseudoarthrogryposis (C566753)
..Pterygium, Antecubital (C566738)
..Sacrococcygeal dysgenesis association (C537225)
..Sternal cleft (C537489)
..Synostosis (D013580) 150
..Tracheobronchomalacia (D055089) 4
..VACTERL Association With Hydrocephalus (C564751)
..Widow's Peak Syndrome (C564040)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10812
Name:	Synostosis
Definition:	A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue. (Dorland, 27th ed)
Alternative IDs:
ParentIDs:	MESH:D004413\|MESH:D009139
TreeNumbers:	C05.116.099.370.894 \|C05.660.906 \|C16.131.621.906
Synonyms:	Synostoses
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease
Reference:	MedGen: D013580 MeSH: D013580 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants