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: Choanal Atresia (D002754)
..Starting node ..Radial ray hypoplasia choanal atresia (C536263)
Child Nodes:
Sister Nodes:
..Aplasia cutis congenita of limbs recessive (C536840)
..Arhinia, choanal atresia, and microphthalmia (C537429)
..Burn-Mckeown syndrome (C537411)
..CHOANAL ATRESIA AND LYMPHEDEMA (OMIM:613611)
..Choanal Atresia, Posterior (C562435)
..Goldblatt Viljoen syndrome (C537280)
..Radial ray hypoplasia choanal atresia (C536263)
..Renal Tubular Dysgenesis With Choanal Atresia And Athelia (C567491)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9566
Name:	Radial ray hypoplasia choanal atresia
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002754
TreeNumbers:	C08.460.171/C536263 \|C08.695.271/C536263 \|C09.603.171/C536263 \|C16.131.077/C536263 \|C16.131.740.271/C536263
Synonyms:	Radial Ray Hypoplasia with Choanal Atresia
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Respiratory tract disease
Reference:	MedGen: C536263 MeSH: C536263 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants