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: Hypopituitarism (D007018)
..Starting node ..Dincsoy Salih Patel syndrome (C536177)
Child Nodes:
Sister Nodes:
..Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies (C535385)
..Combined Pituitary Hormone Deficiency (C580003)
..Dincsoy Salih Patel syndrome (C536177)
..Dwarfism, Pituitary (D004393) 11
..Holoprosencephaly 9 (C563659)
..Hypopituitarism and septooptic 'dysplasia' (C531815)
..Hypopituitarism, Congenital, with Central Diabetes Insipidus (C565477)
..Kaplowitz Bodurtha syndrome (C536893)
..Mental Retardation, X-Linked, With Panhypopituitarism (C567485)
..Panhypopituitarism X-linked (C538613)
..Prolactin Deficiency with Obesity and Enlarged Testes (C564870)
..RHYNS syndrome (C537612)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3383
Name:	Dincsoy Salih Patel syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D007018
TreeNumbers:	C10.228.140.617.738.300/C536177 \|C16.131.077/C536177 \|C19.700.482/C536177
Synonyms:	Dincsoy syndrome \|Midline malformations, multiple, with limb abnormalities and hypopituitarism
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Nervous system disease
Reference:	MedGen: C536177 MeSH: C536177 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants