Disease browser and phenotype portal

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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: Cleft Palate (D002972)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Hand Deformities, Congenital (D006228)
Parent Node: Hearing Loss, Mixed Conductive-Sensorineural (D046089)
..Starting node ..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
Child Nodes:
Sister Nodes:
..Deafness-Hypogonadism Syndrome (C564435)
..Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly (C566524)
..Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss (C566373)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4070
Name:	Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
Definition:
Alternative IDs:
ParentIDs:	MESH:D002972\|MESH:D006228\|MESH:D019465\|MESH:D046089
TreeNumbers:	C05.390.408/C566524 \|C05.500.460.185/C566524 \|C05.660.207.540.460.185/C566524 \|C05.660.207/C566524 \|C05.660.585.988.425/C566524 \|C07.320.440.185/C566524 \|C07.465.525.185/C566524 \|C07.650.500.460.185/C566524 \|C07.650.525.185/C566524 \|C09.218.458.341.849/C566524 \|C1
Synonyms:
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Mouth disease\|Musculoskeletal disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C566524 MeSH: C566524 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants