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 53

Classifications:



Summaries for Autism with Port-Wine Stain

NIH Rare Diseases : 53 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 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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