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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: Facies (D019066)
Parent Node: Muscular Atrophy (D009133)
..Starting node ..Thakker Donnai syndrome (C536503)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Arnold Stickler Bourne syndrome (C537431)
..Facial Dysmorphism with Multiple Malformations (C565579)
..Furukawa Takagi Nakao syndrome (C538193)
..Lethal Congenital Contractural Syndrome 3 (C566961)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Miyoshi Muscular Dystrophy 2 (C567646)
..Miyoshi Muscular Dystrophy 3 (C567645)
..Miyoshi myopathy (C537480)
..Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus (C562774)
..Muscular Atrophy, Malignant Neurogenic (C563559)
..Nathalie syndrome (C538342)
..Primrose syndrome (C536420)
..Sarcopenia (D055948)
..Thakker Donnai syndrome (C536503)
..Wieacker syndrome (C536703)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10953
Name:	Thakker Donnai syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D009133\|MESH:D019066
TreeNumbers:	C10.597.613.612/C536503 \|C16.131.077/C536503 \|C23.300.070.500/C536503 \|C23.550.291.812/C536503 \|C23.888.592.608.612/C536503
Synonyms:	Dysmorphic facial features and multiple structural abnormalities \|Dysmorphism multiple structural anomalies
Slim Mappings:	Congenital abnormality\|Nervous system disease\|Pathology (anatomical condition)\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: C536503 MeSH: C536503 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants