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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: Gonadal Dysgenesis, 46,XY (D006061)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Micrognathism (D008844)
..Starting node ..Genito palato cardiac syndrome (C537683)
Child Nodes:
Sister Nodes:
..Baetz-Greenwalt syndrome (C537795)
..Bird headed dwarfism Montreal type (C535448)
..Cerebral Cavernous Malformations 2 (C566394)
..Cerebral Cavernous Malformations 3 (C566393)
..Cerebrocostomandibular Syndrome (C562538)
..Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia (C565729)
..Coffin-Siris syndrome (C536436)
..Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (C564509)
..Crumpled helices and small mouth (C536217)
..Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia (C563344)
..Genee-Wiedemann syndrome (C537680)
..Genito palato cardiac syndrome (C537683)
..Ho Kaufman Mcalister syndrome (C538325)
..Limb Deficiencies, Distal, with Micrognathia (C565437)
..Meier-Gorlin syndrome (C538012)
..Milner Khallouf Gibson syndrome (C537473)
..Multiple Epiphyseal Dysplasia with Robin Phenotype (C563291)
..Schweitzer Kemink Graham syndrome (C536511)
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..Yunis Varon syndrome (C536719)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4566
Name:	Genito palato cardiac syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002972\|MESH:D006061\|MESH:D006330\|MESH:D008844
TreeNumbers:	C05.500.460.185/C537683 \|C05.500.460.457/C537683 \|C05.660.207.540.460.185/C537683 \|C05.660.207.540.460.457/C537683 \|C07.320.440.185/C537683 \|C07.320.440.457/C537683 \|C07.465.525.185/C537683 \|C07.650.500.460.185/C537683 \|C07.650.500.460.457/C537683 \|C07.650.525.18
Synonyms:	Gardner-Silengo-Wachtel syndrome \|Genito-palato-cardiac syndrome \|Genitopalatocardiac syndrome \|Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Endocrine system disease\|Mouth disease\|Musculoskeletal disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C537683 MeSH: C537683 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants