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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: Dysostoses (D004413)
..Starting node ..Thoracic Dysostosis, Isolated (C566063)
Child Nodes:
Sister Nodes:
..Achard syndrome (C536012)
..Acrodysostosis (C538179)
..Camptodactyly joint contractures and facial skeletal dysplasia (C537969)
..Cervical Vertebrae, Agenesis Of (C562952)
..Craniofacial Dysostosis (D003394) 68
..Diaphanospondylodysostosis (C564305)
..Focal Dermal Hypoplasia (D005489) 1
..Fronto-facio-nasal dysplasia (C538063)
..FRONTONASAL DYSPLASIA 1 (OMIM:136760)
..Klippel-Feil Syndrome (D007714) 5
..Mandibulofacial Dysostosis Syndrome, Bauru Type (C565744)
..Mandibulofacial Dysostosis with Macroblepharon and Macrostomia (C566520)
..Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness (C565396)
..Orofaciodigital Syndromes (D009958) 14
..Pelviscapular dysplasia (C535550) 1
..Rubinstein-Taybi Syndrome (D012415) 2
..Spondylocostal Dysostosis 4, Autosomal Dominant (C565149)
..SPONDYLOCOSTAL DYSOSTOSIS 5, AUTOSOMAL DOMINANT (OMIM:122600)
..Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies (C564799)
..Spondylocostal dysostosis, autosomal recessive (C535781) 4
..Spondylospinal Thoracic Dysostosis (C566622)
..Synostosis (D013580) 150
..Thoracic Dysostosis, Isolated (C566063)
..Thoracopelvic Dysostosis (C566062)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10974

Name:

Thoracic Dysostosis, Isolated

Definition:

Alternative IDs:

ParentIDs:

MESH:D004413

TreeNumbers:

C05.116.099.370/C566063

Synonyms:

Slim Mappings:

Musculoskeletal disease

Reference:

MedGen: C566063
MeSH: C566063
OMIM: 187750;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001591	Bell-shaped thorax
3	HP:0000767	Pectus excavatum
4	HP:0002205	Recurrent respiratory infections
5	HP:0000773	Short ribs

Disease Causing ClinVar Variants