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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: Growth Disorders (D006130)
Parent Node: Nephrotic Syndrome (D009404)
..Starting node ..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
Child Nodes:
Sister Nodes:
..Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome (C565852)
..Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type (C562683)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Hutterite cerebroosteonephrodysplasia syndrome (C536074)
..Mesangial sclerosis, diffuse (C537346)
..Mesangial Sclerosis, Diffuse Renal, with Ocular Abnormalities (C565405)
..Nephrosis, congenital (C535761)
..Nephrotic syndrome ocular anomalies (C536403)
..Nephrotic Syndrome, Congenital, with or without Ocular Abnormalities (C563805)
..Nephrotic syndrome, idiopathic, steroid-resistant (C536404)
..NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
..NEPHROTIC SYNDROME, TYPE 4 (OMIM:256370)
..Pierson syndrome (C537185)
..Schimke immunoosseous dysplasia (C536629)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5291

Name:

Hutterite cerebroosteonephrodysplasia syndrome

Definition:

Alternative IDs:

ParentIDs:

MESH:D006130|MESH:D009404

TreeNumbers:

C12.777.419.630.643/C536074 |C13.351.968.419.630.643/C536074 |C23.550.393/C536074

Synonyms:

Cerebroosteonephrosis syndrome |Congenital shortness with mild spondylorhizomelic dwarfism

Slim Mappings:

Pathology (process)|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536074
MeSH: C536074
OMIM: 236450;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008872	Feeding difficulties in infancy
3	HP:0010864	Intellectual disability, severe
4	HP:0000100	Nephrotic syndrome
5	HP:0004322	Short stature

Disease Causing ClinVar Variants