MCID: FRN026
MIFTS: 4

Frontonasal Dysplasia Phocomelic Upper Limbs

Categories: Rare diseases

Aliases & Classifications for Frontonasal Dysplasia Phocomelic Upper Limbs

MalaCards integrated aliases for Frontonasal Dysplasia Phocomelic Upper Limbs:

Name: Frontonasal Dysplasia Phocomelic Upper Limbs 52

Classifications:



Summaries for Frontonasal Dysplasia Phocomelic Upper Limbs

MalaCards based summary : Frontonasal Dysplasia Phocomelic Upper Limbs is related to frontonasal dysplasia 1 and choanal atresia, posterior. Affiliated tissues include heart.

Related Diseases for Frontonasal Dysplasia Phocomelic Upper Limbs

Diseases related to Frontonasal Dysplasia Phocomelic Upper Limbs via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 frontonasal dysplasia 1 10.4
2 choanal atresia, posterior 10.4

Symptoms & Phenotypes for Frontonasal Dysplasia Phocomelic Upper Limbs

Drugs & Therapeutics for Frontonasal Dysplasia Phocomelic Upper Limbs

Search Clinical Trials , NIH Clinical Center for Frontonasal Dysplasia Phocomelic Upper Limbs

Genetic Tests for Frontonasal Dysplasia Phocomelic Upper Limbs

Anatomical Context for Frontonasal Dysplasia Phocomelic Upper Limbs

MalaCards organs/tissues related to Frontonasal Dysplasia Phocomelic Upper Limbs:

40
Heart

Publications for Frontonasal Dysplasia Phocomelic Upper Limbs

Articles related to Frontonasal Dysplasia Phocomelic Upper Limbs:

# Title Authors PMID Year
1
Intrauterine growth retardation, mild frontonasal dysplasia, phocomelic upper limbs with absent thumbs and a variety of internal malformations including choanal atresia, congenital heart defects, polysplenia, absent gall bladder as well as genitourinary anomalies. A possibly "new" MCA syndrome? 61
1590982 1992

Variations for Frontonasal Dysplasia Phocomelic Upper Limbs

Expression for Frontonasal Dysplasia Phocomelic Upper Limbs

Search GEO for disease gene expression data for Frontonasal Dysplasia Phocomelic Upper Limbs.

Pathways for Frontonasal Dysplasia Phocomelic Upper Limbs

GO Terms for Frontonasal Dysplasia Phocomelic Upper Limbs

Sources for Frontonasal Dysplasia Phocomelic Upper Limbs

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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