MCID: ACR100
MIFTS: 6

Acrofacial Dysostosis, Patagonia Type

Categories: Bone diseases
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Aliases & Classifications for Acrofacial Dysostosis, Patagonia Type

MalaCards integrated aliases for Acrofacial Dysostosis, Patagonia Type:

Name: Acrofacial Dysostosis, Patagonia Type 11
Acrofacial Dysostosis, Palagonia Type 43

Classifications:



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Disease Ontology 11 DOID:0060385
MeSH 43 C538185
SNOMED-CT 68 720429007
UMLS 71 C1866168

Summaries for Acrofacial Dysostosis, Patagonia Type

Disease Ontology: 11 An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has material basis in X-linked dominant inheritance.

MalaCards based summary: Acrofacial Dysostosis, Patagonia Type, also known as acrofacial dysostosis, palagonia type, is related to acrofacial dysostosis, palagonia type. Affiliated tissues include bone.

Related Diseases for Acrofacial Dysostosis, Patagonia Type

Diseases related to Acrofacial Dysostosis, Patagonia Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, palagonia type 11.7

Symptoms & Phenotypes for Acrofacial Dysostosis, Patagonia Type

Drugs & Therapeutics for Acrofacial Dysostosis, Patagonia Type

Search Clinical Trials, NIH Clinical Center for Acrofacial Dysostosis, Patagonia Type

Cochrane evidence based reviews: acrofacial dysostosis, palagonia type

Genetic Tests for Acrofacial Dysostosis, Patagonia Type

Anatomical Context for Acrofacial Dysostosis, Patagonia Type

Organs/tissues related to Acrofacial Dysostosis, Patagonia Type:

MalaCards : Bone

Publications for Acrofacial Dysostosis, Patagonia Type

Variations for Acrofacial Dysostosis, Patagonia Type

Expression for Acrofacial Dysostosis, Patagonia Type

Search GEO for disease gene expression data for Acrofacial Dysostosis, Patagonia Type.

Pathways for Acrofacial Dysostosis, Patagonia Type

GO Terms for Acrofacial Dysostosis, Patagonia Type

Sources for Acrofacial Dysostosis, Patagonia Type

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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