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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: Craniofacial Abnormalities (D019465)
Parent Node: Facies (D019066)
Parent Node: Kallmann Syndrome (D017436)
..Starting node ..Brachytelephalangy characteristic facies Kallmann (C537101)
Child Nodes:
Sister Nodes:
..Brachytelephalangy characteristic facies Kallmann (C537101)
..Hypogonadotropic hypogonadism and anosmia, autosomal dominant (C538534)
..Kallmann Syndrome 2 with Bimanual Synkinesia (C563652)
..Kallmann Syndrome 2 with Cleft Lip or Palate (C563651)
..Kallmann Syndrome 2 with Selective Tooth Agenesis (C566948)
..Kallmann Syndrome 4 (C565696)
..Kallmann Syndrome 5 (C567220)
..Kallmann Syndrome 6 (C567199)
..Spastic paraplegia with Kallmann syndrome (C536873)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1439
Name:	Brachytelephalangy characteristic facies Kallmann
Definition:
Alternative IDs:
ParentIDs:	MESH:D017436\|MESH:D019066\|MESH:D019465
TreeNumbers:	C05.660.207/C537101 \|C12.706.316.096.750/C537101 \|C13.351.875.253.096.750/C537101 \|C16.131.621.207/C537101 \|C16.131.939.316.096.750/C537101 \|C16.320.467/C537101 \|C19.391.119.096.750/C537101 \|C19.391.482.600/C537101 \|C23.550.291.812/C537101
Synonyms:	Brachytelephalangy with Characteristic Facies and Kallmann Syndrome \|Characteristic craniofacial appearance and brachytelephalangy
Slim Mappings:	Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Musculoskeletal disease\|Pathology (process)\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537101 MeSH: C537101 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants