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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

Disease Browser
Parent Node: Bone Diseases, Developmental (D001848)
Parent Node: Cartilage Diseases (D002357)
Parent Node: Musculoskeletal Abnormalities (D009139)
..Starting node ..Pectus Carinatum (D066166)
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:	8732
Name:	Pectus Carinatum
Definition:	A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE.
Alternative IDs:
ParentIDs:	MESH:D001848\|MESH:D002357\|MESH:D009139
TreeNumbers:	C05.116.099.739 \|C05.182.525 \|C05.660.745 \|C16.131.621.745 \|C17.300.182.525
Synonyms:	Arcuate Pectus Carinatum \|Arcuate Pectus Carinatums \|Breast, Pouter Pigeon \|Breasts, Pouter Pigeon \|Carinatum, Arcuate Pectus \|Carinatum, Chondrogladiolar Pectus \|Carinatum, Chondromanubrial Pectus \|Carinatum, Pectus \|Carinatums, Arcuate Pectus \|Carinatums, Chond
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Musculoskeletal disease
Reference:	MedGen: D066166 MeSH: D066166 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants