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: Fetal Growth Retardation (D005317)
Parent Node: Psychomotor Disorders (D011596)
..Starting node ..Bowen-Conradi syndrome (C537081)
Child Nodes:
Sister Nodes:
..Apraxias (D001072) 10
..Bowen-Conradi syndrome (C537081)
..C SYNDROME (OMIM:211750)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..De Hauwere Leroy Adriaenssens syndrome (C535991)
..Developmental Delay, Epilepsy, and Neonatal Diabetes (C565253)
..Diaminopentanuria (C565630)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Edinburgh Malformation Syndrome (C563051)
..Fumaric aciduria (C538191)
..Genitopatellar Syndrome (C565255)
..Growth Retardation, Small and Puffy Hands and Feet, and Eczema (C565528)
..Hypomyelination, Global Cerebral (C567847)
..Ichthyosis prematurity syndrome (C536271)
..Kozlowski Rafinski Klicharska syndrome (C537509)
..MacDermot Winter syndrome (C537714)
..Megarbane syndrome (C536145)
..Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay (C563345)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..Psychomotor Agitation (D011595) 1
..Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1393

Name:

Bowen-Conradi syndrome

Definition:

Alternative IDs:

OMIM:211180

ParentIDs:

MESH:D005317|MESH:D011596

TreeNumbers:

C10.597.606.881/C537081 |C13.703.277.370/C537081 |C16.300.390/C537081 |C23.550.393.450/C537081 |C23.888.592.604.882/C537081

Synonyms:

Bowen-Conradi Hutterite syndrome |BOWEN HUTTERITE SYNDROME, FORMERLY |BWCNS

Slim Mappings:

Fetal disease|Nervous system disease|Pathology (process)|Pregnancy complication|Signs and symptoms

Reference:

MedGen: C537081
MeSH: C537081
OMIM: 211180;

Genes: EMG1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001367	Abnormal joint morphology
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0000252	Microcephaly
5	HP:0000347	Micrognathia
6	HP:0000448	Prominent nose
7	HP:0001838	Rocker bottom foot
8	HP:0001518	Small for gestational age

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_006331.7(EMG1):c.257A>G (p.Asp86Gly)	10436	EMG1	Pathogenic	74435397	RCV000000938;	N	MedGen:C1859405,OMIM:211180,ORPHA:1270	12	7083589	7083589	NM_006331.7:c.257A>G	NP_006322.4:p.Asp86Gly	NC_000012.11:g.7083589A>G	OMIM Allelic Variant:611531.0001	C1859405 211180 Bowen-Conradi syndrome