MCID: ATS014
MIFTS: 3

Autism with Port-Wine Stain

Categories: Rare diseases

Aliases & Classifications for Autism with Port-Wine Stain

MalaCards integrated aliases for Autism with Port-Wine Stain:

Name: Autism with Port-Wine Stain 54

Classifications:



Summaries for Autism with Port-Wine Stain

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 137911Disease definitionThis syndrome is characterised by the presence of a unilateral angioma on the face and autistic developmental problems characterised by language delay and atypical social interactions.EpidemiologySo far, the syndrome has been described in four children.Diagnostic methodsThe initial diagnosis was Sturge-Weber syndrome (see this term), despite the absence of leptomeningeal angiomatosis which is one of the hallmarks of this disease.Visit the Orphanet disease page for more resources.

MalaCards based summary : Autism with Port-Wine Stain

Related Diseases for Autism with Port-Wine Stain

Symptoms & Phenotypes for Autism with Port-Wine Stain

Drugs & Therapeutics for Autism with Port-Wine Stain

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Variations for Autism with Port-Wine Stain

Expression for Autism with Port-Wine Stain

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Pathways for Autism with Port-Wine Stain

GO Terms for Autism with Port-Wine Stain

Sources for Autism with Port-Wine Stain

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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