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 53 73
Severe Growth Retardation, Developmental Delay with Hypotonia, Hypotrophy of the Distal Extremities, Dental Anomalies, and Eczematous Skin 53
Growth Retardation, Small and Puffy Hands and Feet, and Eczema 53
Developmental Delay - Hypotonia - Extremities Hypertrophy 53

Classifications:



External Ids:

UMLS 73 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:

41
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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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