MCID: GRB001
MIFTS: 7

Grubben De Cock Borghgraef Syndrome

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Grubben De Cock Borghgraef Syndrome

MalaCards integrated aliases for Grubben De Cock Borghgraef Syndrome:

Name: Grubben De Cock Borghgraef Syndrome 49 69
Severe Growth Retardation, Developmental Delay with Hypotonia, Hypotrophy of the Distal Extremities, Dental Anomalies, and Eczematous Skin 49
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 49
Developmental Delay - Hypotonia - Extremities Hypertrophy 49

Classifications:



External Ids:

UMLS 69 C2931551

Summaries for Grubben De Cock Borghgraef Syndrome

MalaCards based summary : Grubben De Cock Borghgraef Syndrome, also known as severe growth retardation, developmental delay with hypotonia, hypotrophy of the distal extremities, dental anomalies, and eczematous skin, is related to growth retardation, small and puffy hands and feet, and eczema. Affiliated tissues include skin.

Related Diseases for Grubben De Cock Borghgraef Syndrome

Diseases related to Grubben De Cock Borghgraef Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 growth retardation, small and puffy hands and feet, and eczema 11.6

Symptoms & Phenotypes for Grubben De Cock Borghgraef Syndrome

Drugs & Therapeutics for Grubben De Cock Borghgraef Syndrome

Search Clinical Trials , NIH Clinical Center for Grubben De Cock Borghgraef Syndrome

Genetic Tests for Grubben De Cock Borghgraef Syndrome

Anatomical Context for Grubben De Cock Borghgraef Syndrome

MalaCards organs/tissues related to Grubben De Cock Borghgraef Syndrome:

38
Skin

Publications for Grubben De Cock Borghgraef Syndrome

Variations for Grubben De Cock Borghgraef Syndrome

Expression for Grubben De Cock Borghgraef Syndrome

Search GEO for disease gene expression data for Grubben De Cock Borghgraef Syndrome.

Pathways for Grubben De Cock Borghgraef Syndrome

GO Terms for Grubben De Cock Borghgraef Syndrome

Sources for Grubben De Cock Borghgraef Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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