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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: Abnormalities, Multiple (D000015)
Parent Node: Cataract (D002386)
Parent Node: Dental Enamel Hypoplasia (D003744)
..Starting node ..Seow Najjar syndrome (C537584)
Child Nodes:
Sister Nodes:
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amelogenesis Imperfecta (D000567) 18
..Ameloonychohypohidrotic syndrome (C538245)
..Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis (C563430)
..Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia (C566352)
..Oculodentoosseous dysplasia recessive (C537733)
..Pfeiffer Palm Teller syndrome (C537889)
..Seow Najjar syndrome (C537584)
..Singleton Merten syndrome (C537343)
..Tricho-dento-osseous syndrome (C536549)
..Trichoodontoonychial Dysplasia (C564760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10129
Name:	Seow Najjar syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D002386\|MESH:D003744
TreeNumbers:	C07.650.800.255/C537584 \|C07.793.700.255/C537584 \|C11.510.245/C537584 \|C16.131.077/C537584 \|C16.131.850.800.255/C537584
Synonyms:	Enamel hypoplasia, capsular cataracts, and ductal stenosis
Slim Mappings:	Congenital abnormality\|Eye disease\|Mouth disease
Reference:	MedGen: C537584 MeSH: C537584 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants