Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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

Disease Browser
Parent Node: Abnormalities, Multiple (D000015)
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Dislocations (D004204)
Parent Node: Musculoskeletal Abnormalities (D009139)
..Starting node ..Larsen syndrome, recessive type (C537874)
Child Nodes:
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:	6204
Name:	Larsen syndrome, recessive type
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D001848\|MESH:D004204\|MESH:D009139
TreeNumbers:	C05.116.099/C537874 \|C05.660/C537874 \|C16.131.077/C537874 \|C16.131.621/C537874 \|C26.289/C537874
Synonyms:	Autosomal Recessive Larsen Syndrome \|Larsen Syndrome, Recessive
Slim Mappings:	Congenital abnormality\|Musculoskeletal disease\|Wounds and injuries
Reference:	MedGen: C537874 MeSH: C537874 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants